WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.57987232_57987239delinsCGGAAGTA | CA2180083958 | ALDH1A2 | c.798+5466_798+5473delinsTACTTCCG (n.798+5466_798+5473delinsTACTTCCG) c.684+5706_684+5713delinsTACTTCCG (n.684+5706_684+5713delinsTACTTCCG) c.*772+5466_*772+5473delinsTACTTCCG (n.*772+5466_*772+5473delinsTACTTCCG) c.735+5466_735+5473delinsTACTTCCG (n.735+5466_735+5473delinsTACTTCCG) c.711+5466_711+5473delinsTACTTCCG (n.711+5466_711+5473delinsTACTTCCG) c.510+5466_510+5473delinsTACTTCCG (n.510+5466_510+5473delinsTACTTCCG) | |
| 15 | g.57987234_57987240del | CA714240092 | ALDH1A2 | c.798+5466_798+5472del (n.798+5466_798+5472del) c.684+5706_684+5712del (n.684+5706_684+5712del) c.*772+5466_*772+5472del (n.*772+5466_*772+5472del) c.735+5466_735+5472del (n.735+5466_735+5472del) c.711+5466_711+5472del (n.711+5466_711+5472del) c.510+5466_510+5472del (n.510+5466_510+5472del) | dbSNP |
| 15 | g.57987234G>A | CA14102238 | ALDH1A2 | c.798+5471C>T (n.798+5471C>T) c.684+5711C>T (n.684+5711C>T) c.*772+5471C>T (n.*772+5471C>T) c.735+5471C>T (n.735+5471C>T) c.711+5471C>T (n.711+5471C>T) c.510+5471C>T (n.510+5471C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987234G>C | CA2581219270 | ALDH1A2 | c.798+5471C>G (n.798+5471C>G) c.684+5711C>G (n.684+5711C>G) c.*772+5471C>G (n.*772+5471C>G) c.735+5471C>G (n.735+5471C>G) c.711+5471C>G (n.711+5471C>G) c.510+5471C>G (n.510+5471C>G) | |
| 15 | g.57987234G= | CA2180083969 | ALDH1A2 | c.798+5471C= (n.798+5471C=) c.684+5711C= (n.684+5711C=) c.*772+5471C= (n.*772+5471C=) c.735+5471C= (n.735+5471C=) c.711+5471C= (n.711+5471C=) c.510+5471C= (n.510+5471C=) | |
| 15 | g.57987234G>T | CA2581219271 | ALDH1A2 | c.798+5471C>A (n.798+5471C>A) c.684+5711C>A (n.684+5711C>A) c.*772+5471C>A (n.*772+5471C>A) c.735+5471C>A (n.735+5471C>A) c.711+5471C>A (n.711+5471C>A) c.510+5471C>A (n.510+5471C>A) | |
| 15 | g.57987236A= | CA2180083971 | ALDH1A2 | c.798+5469T= (n.798+5469T=) c.684+5709T= (n.684+5709T=) c.*772+5469T= (n.*772+5469T=) c.735+5469T= (n.735+5469T=) c.711+5469T= (n.711+5469T=) c.510+5469T= (n.510+5469T=) | |
| 15 | g.57987236A>G | CA714240104 | ALDH1A2 | c.798+5469T>C (n.798+5469T>C) c.684+5709T>C (n.684+5709T>C) c.*772+5469T>C (n.*772+5469T>C) c.735+5469T>C (n.735+5469T>C) c.711+5469T>C (n.711+5469T>C) c.510+5469T>C (n.510+5469T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987237G>C | CA714240112 | ALDH1A2 | c.798+5468C>G (n.798+5468C>G) c.684+5708C>G (n.684+5708C>G) c.*772+5468C>G (n.*772+5468C>G) c.735+5468C>G (n.735+5468C>G) c.711+5468C>G (n.711+5468C>G) c.510+5468C>G (n.510+5468C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987237G= | CA2180083974 | ALDH1A2 | c.798+5468C= (n.798+5468C=) c.684+5708C= (n.684+5708C=) c.*772+5468C= (n.*772+5468C=) c.735+5468C= (n.735+5468C=) c.711+5468C= (n.711+5468C=) c.510+5468C= (n.510+5468C=) | |
| 15 | g.57987238T>A | CA970287004 | ALDH1A2 | c.798+5467A>T (n.798+5467A>T) c.684+5707A>T (n.684+5707A>T) c.*772+5467A>T (n.*772+5467A>T) c.735+5467A>T (n.735+5467A>T) c.711+5467A>T (n.711+5467A>T) c.510+5467A>T (n.510+5467A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.57987238T>G | CA970287007 | ALDH1A2 | c.798+5467A>C (n.798+5467A>C) c.684+5707A>C (n.684+5707A>C) c.*772+5467A>C (n.*772+5467A>C) c.735+5467A>C (n.735+5467A>C) c.711+5467A>C (n.711+5467A>C) c.510+5467A>C (n.510+5467A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987238T= | CA2180083977 | ALDH1A2 | c.798+5467A= (n.798+5467A=) c.684+5707A= (n.684+5707A=) c.*772+5467A= (n.*772+5467A=) c.735+5467A= (n.735+5467A=) c.711+5467A= (n.711+5467A=) c.510+5467A= (n.510+5467A=) | |
| 15 | g.57987240G>A | CA970287015 | ALDH1A2 | c.798+5465C>T (n.798+5465C>T) c.684+5705C>T (n.684+5705C>T) c.*772+5465C>T (n.*772+5465C>T) c.735+5465C>T (n.735+5465C>T) c.711+5465C>T (n.711+5465C>T) c.510+5465C>T (n.510+5465C>T) | gnomAD v3 gnomAD v4 |
| 15 | g.57987244G>A | CA618383226 | ALDH1A2 | c.798+5461C>T (n.798+5461C>T) c.684+5701C>T (n.684+5701C>T) c.*772+5461C>T (n.*772+5461C>T) c.735+5461C>T (n.735+5461C>T) c.711+5461C>T (n.711+5461C>T) c.510+5461C>T (n.510+5461C>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987245C>A | CA618383227 | ALDH1A2 | c.798+5460G>T (n.798+5460G>T) c.684+5700G>T (n.684+5700G>T) c.*772+5460G>T (n.*772+5460G>T) c.735+5460G>T (n.735+5460G>T) c.711+5460G>T (n.711+5460G>T) c.510+5460G>T (n.510+5460G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987245C= | CA2180083981 | ALDH1A2 | c.798+5460G= (n.798+5460G=) c.684+5700G= (n.684+5700G=) c.*772+5460G= (n.*772+5460G=) c.735+5460G= (n.735+5460G=) c.711+5460G= (n.711+5460G=) c.510+5460G= (n.510+5460G=) | |
| 15 | g.57987245C>G | CA970287018 | ALDH1A2 | c.798+5460G>C (n.798+5460G>C) c.684+5700G>C (n.684+5700G>C) c.*772+5460G>C (n.*772+5460G>C) c.735+5460G>C (n.735+5460G>C) c.711+5460G>C (n.711+5460G>C) c.510+5460G>C (n.510+5460G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987245_57987248delinsCAAA | CA2180083980 | ALDH1A2 | c.798+5457_798+5460delinsTTTG (n.798+5457_798+5460delinsTTTG) c.684+5697_684+5700delinsTTTG (n.684+5697_684+5700delinsTTTG) c.*772+5457_*772+5460delinsTTTG (n.*772+5457_*772+5460delinsTTTG) c.735+5457_735+5460delinsTTTG (n.735+5457_735+5460delinsTTTG) c.711+5457_711+5460delinsTTTG (n.711+5457_711+5460delinsTTTG) c.510+5457_510+5460delinsTTTG (n.510+5457_510+5460delinsTTTG) | |
| 15 | g.57987246A= | CA2180083991 | ALDH1A2 | c.798+5459T= (n.798+5459T=) c.684+5699T= (n.684+5699T=) c.*772+5459T= (n.*772+5459T=) c.735+5459T= (n.735+5459T=) c.711+5459T= (n.711+5459T=) c.510+5459T= (n.510+5459T=) | |
| 15 | g.57987246A>G | CA618383233 | ALDH1A2 | c.798+5459T>C (n.798+5459T>C) c.684+5699T>C (n.684+5699T>C) c.*772+5459T>C (n.*772+5459T>C) c.735+5459T>C (n.735+5459T>C) c.711+5459T>C (n.711+5459T>C) c.510+5459T>C (n.510+5459T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987255_57987256insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA970287025 | ALDH1A2 | c.798+5459_798+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.798+5459_798+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.684+5699_684+5700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.684+5699_684+5700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+5459_*772+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+5459_*772+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.735+5459_735+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.735+5459_735+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.711+5459_711+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.711+5459_711+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.510+5459_510+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.510+5459_510+5460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.57987255dup | CA618383231 | ALDH1A2 | c.798+5459dup (n.798+5459dup) c.684+5699dup (n.684+5699dup) c.*772+5459dup (n.*772+5459dup) c.735+5459dup (n.735+5459dup) c.711+5459dup (n.711+5459dup) c.510+5459dup (n.510+5459dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987254_57987255dup | CA970287023 | ALDH1A2 | c.798+5458_798+5459dup (n.798+5458_798+5459dup) c.684+5698_684+5699dup (n.684+5698_684+5699dup) c.*772+5458_*772+5459dup (n.*772+5458_*772+5459dup) c.735+5458_735+5459dup (n.735+5458_735+5459dup) c.711+5458_711+5459dup (n.711+5458_711+5459dup) c.510+5458_510+5459dup (n.510+5458_510+5459dup) | gnomAD v3 gnomAD v4 |
| 15 | g.57987255del | CA271343875 | ALDH1A2 | c.798+5459del (n.798+5459del) c.684+5699del (n.684+5699del) c.*772+5459del (n.*772+5459del) c.735+5459del (n.735+5459del) c.711+5459del (n.711+5459del) c.510+5459del (n.510+5459del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987254_57987255del | CA970287029 | ALDH1A2 | c.798+5458_798+5459del (n.798+5458_798+5459del) c.684+5698_684+5699del (n.684+5698_684+5699del) c.*772+5458_*772+5459del (n.*772+5458_*772+5459del) c.735+5458_735+5459del (n.735+5458_735+5459del) c.711+5458_711+5459del (n.711+5458_711+5459del) c.510+5458_510+5459del (n.510+5458_510+5459del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987253_57987255del | CA970287031 | ALDH1A2 | c.798+5457_798+5459del (n.798+5457_798+5459del) c.684+5697_684+5699del (n.684+5697_684+5699del) c.*772+5457_*772+5459del (n.*772+5457_*772+5459del) c.735+5457_735+5459del (n.735+5457_735+5459del) c.711+5457_711+5459del (n.711+5457_711+5459del) c.510+5457_510+5459del (n.510+5457_510+5459del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987247A= | CA2180084001 | ALDH1A2 | c.798+5458T= (n.798+5458T=) c.684+5698T= (n.684+5698T=) c.*772+5458T= (n.*772+5458T=) c.735+5458T= (n.735+5458T=) c.711+5458T= (n.711+5458T=) c.510+5458T= (n.510+5458T=) | |
| 15 | g.57987247A>G | CA714240128 | ALDH1A2 | c.798+5458T>C (n.798+5458T>C) c.684+5698T>C (n.684+5698T>C) c.*772+5458T>C (n.*772+5458T>C) c.735+5458T>C (n.735+5458T>C) c.711+5458T>C (n.711+5458T>C) c.510+5458T>C (n.510+5458T>C) | dbSNP |
| 15 | g.57987250A= | CA2180084003 | ALDH1A2 | c.798+5455T= (n.798+5455T=) c.684+5695T= (n.684+5695T=) c.*772+5455T= (n.*772+5455T=) c.735+5455T= (n.735+5455T=) c.711+5455T= (n.711+5455T=) c.510+5455T= (n.510+5455T=) | |
| 15 | g.57987250A>G | CA2180084006 | ALDH1A2 | c.798+5455T>C (n.798+5455T>C) c.684+5695T>C (n.684+5695T>C) c.*772+5455T>C (n.*772+5455T>C) c.735+5455T>C (n.735+5455T>C) c.711+5455T>C (n.711+5455T>C) c.510+5455T>C (n.510+5455T>C) | dbSNP |
| 15 | g.57987251A= | CA2180084019 | ALDH1A2 | c.798+5454T= (n.798+5454T=) c.684+5694T= (n.684+5694T=) c.*772+5454T= (n.*772+5454T=) c.735+5454T= (n.735+5454T=) c.711+5454T= (n.711+5454T=) c.510+5454T= (n.510+5454T=) | |
| 15 | g.57987251A>G | CA2180084020 | ALDH1A2 | c.798+5454T>C (n.798+5454T>C) c.684+5694T>C (n.684+5694T>C) c.*772+5454T>C (n.*772+5454T>C) c.735+5454T>C (n.735+5454T>C) c.711+5454T>C (n.711+5454T>C) c.510+5454T>C (n.510+5454T>C) | dbSNP |
| 15 | g.57987251A>T | CA714240130 | ALDH1A2 | c.798+5454T>A (n.798+5454T>A) c.684+5694T>A (n.684+5694T>A) c.*772+5454T>A (n.*772+5454T>A) c.735+5454T>A (n.735+5454T>A) c.711+5454T>A (n.711+5454T>A) c.510+5454T>A (n.510+5454T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987253A= | CA2180084024 | ALDH1A2 | c.798+5452T= (n.798+5452T=) c.684+5692T= (n.684+5692T=) c.*772+5452T= (n.*772+5452T=) c.735+5452T= (n.735+5452T=) c.711+5452T= (n.711+5452T=) c.510+5452T= (n.510+5452T=) | |
| 15 | g.57987253A>G | CA618383234 | ALDH1A2 | c.798+5452T>C (n.798+5452T>C) c.684+5692T>C (n.684+5692T>C) c.*772+5452T>C (n.*772+5452T>C) c.735+5452T>C (n.735+5452T>C) c.711+5452T>C (n.711+5452T>C) c.510+5452T>C (n.510+5452T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987253_57987256delinsAAAG | CA2180084023 | ALDH1A2 | c.798+5449_798+5452delinsCTTT (n.798+5449_798+5452delinsCTTT) c.684+5689_684+5692delinsCTTT (n.684+5689_684+5692delinsCTTT) c.*772+5449_*772+5452delinsCTTT (n.*772+5449_*772+5452delinsCTTT) c.735+5449_735+5452delinsCTTT (n.735+5449_735+5452delinsCTTT) c.711+5449_711+5452delinsCTTT (n.711+5449_711+5452delinsCTTT) c.510+5449_510+5452delinsCTTT (n.510+5449_510+5452delinsCTTT) | |
| 15 | g.57987255_57987257del | CA714240135 | ALDH1A2 | c.798+5449_798+5451del (n.798+5449_798+5451del) c.684+5689_684+5691del (n.684+5689_684+5691del) c.*772+5449_*772+5451del (n.*772+5449_*772+5451del) c.735+5449_735+5451del (n.735+5449_735+5451del) c.711+5449_711+5451del (n.711+5449_711+5451del) c.510+5449_510+5451del (n.510+5449_510+5451del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987255A= | CA2180084037 | ALDH1A2 | c.798+5450T= (n.798+5450T=) c.684+5690T= (n.684+5690T=) c.*772+5450T= (n.*772+5450T=) c.735+5450T= (n.735+5450T=) c.711+5450T= (n.711+5450T=) c.510+5450T= (n.510+5450T=) | |
| 15 | g.57987255A>T | CA2180084041 | ALDH1A2 | c.798+5450T>A (n.798+5450T>A) c.684+5690T>A (n.684+5690T>A) c.*772+5450T>A (n.*772+5450T>A) c.735+5450T>A (n.735+5450T>A) c.711+5450T>A (n.711+5450T>A) c.510+5450T>A (n.510+5450T>A) | dbSNP |
| 15 | g.57987255_57987256delinsAG | CA2180084034 | ALDH1A2 | c.798+5449_798+5450delinsCT (n.798+5449_798+5450delinsCT) c.684+5689_684+5690delinsCT (n.684+5689_684+5690delinsCT) c.*772+5449_*772+5450delinsCT (n.*772+5449_*772+5450delinsCT) c.735+5449_735+5450delinsCT (n.735+5449_735+5450delinsCT) c.711+5449_711+5450delinsCT (n.711+5449_711+5450delinsCT) c.510+5449_510+5450delinsCT (n.510+5449_510+5450delinsCT) | |
| 15 | g.57987255_57987256insT | CA714240138 | ALDH1A2 | c.798+5449_798+5450insA (n.798+5449_798+5450insA) c.684+5689_684+5690insA (n.684+5689_684+5690insA) c.*772+5449_*772+5450insA (n.*772+5449_*772+5450insA) c.735+5449_735+5450insA (n.735+5449_735+5450insA) c.711+5449_711+5450insA (n.711+5449_711+5450insA) c.510+5449_510+5450insA (n.510+5449_510+5450insA) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987256del | CA271343876 | ALDH1A2 | c.798+5449del (n.798+5449del) c.684+5689del (n.684+5689del) c.*772+5449del (n.*772+5449del) c.735+5449del (n.735+5449del) c.711+5449del (n.711+5449del) c.510+5449del (n.510+5449del) | dbSNP |
| 15 | g.57987256G>A | CA970287049 | ALDH1A2 | c.798+5449C>T (n.798+5449C>T) c.684+5689C>T (n.684+5689C>T) c.*772+5449C>T (n.*772+5449C>T) c.735+5449C>T (n.735+5449C>T) c.711+5449C>T (n.711+5449C>T) c.510+5449C>T (n.510+5449C>T) | gnomAD v3 gnomAD v4 |
| 15 | g.57987256G= | CA2180084046 | ALDH1A2 | c.798+5449C= (n.798+5449C=) c.684+5689C= (n.684+5689C=) c.*772+5449C= (n.*772+5449C=) c.735+5449C= (n.735+5449C=) c.711+5449C= (n.711+5449C=) c.510+5449C= (n.510+5449C=) | |
| 15 | g.57987256G>T | CA714240140 | ALDH1A2 | c.798+5449C>A (n.798+5449C>A) c.684+5689C>A (n.684+5689C>A) c.*772+5449C>A (n.*772+5449C>A) c.735+5449C>A (n.735+5449C>A) c.711+5449C>A (n.711+5449C>A) c.510+5449C>A (n.510+5449C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987258T>A | CA970287053 | ALDH1A2 | c.798+5447A>T (n.798+5447A>T) c.684+5687A>T (n.684+5687A>T) c.*772+5447A>T (n.*772+5447A>T) c.735+5447A>T (n.735+5447A>T) c.711+5447A>T (n.711+5447A>T) c.510+5447A>T (n.510+5447A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.57987259T>A | CA970287058 | ALDH1A2 | c.798+5446A>T (n.798+5446A>T) c.684+5686A>T (n.684+5686A>T) c.*772+5446A>T (n.*772+5446A>T) c.735+5446A>T (n.735+5446A>T) c.711+5446A>T (n.711+5446A>T) c.510+5446A>T (n.510+5446A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.57987259T>G | CA618383237 | ALDH1A2 | c.798+5446A>C (n.798+5446A>C) c.684+5686A>C (n.684+5686A>C) c.*772+5446A>C (n.*772+5446A>C) c.735+5446A>C (n.735+5446A>C) c.711+5446A>C (n.711+5446A>C) c.510+5446A>C (n.510+5446A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.57987259T= | CA2180084052 | ALDH1A2 | c.798+5446A= (n.798+5446A=) c.684+5686A= (n.684+5686A=) c.*772+5446A= (n.*772+5446A=) c.735+5446A= (n.735+5446A=) c.711+5446A= (n.711+5446A=) c.510+5446A= (n.510+5446A=) |