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.
Linked Data
dbSNP Id:
rs1468817128
gnomAD v2:
17-37822019-A-AGGGGCAGTGCCAGGTGCT
gnomAD v4:
17-39665766-A-AGGGGCAGTGCCAGGTGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665769_39665786dup , CM000679.2:g.39665769_39665786dup | GRCh38 |
| NC_000017.10:g.37822022_37822039dup , CM000679.1:g.37822022_37822039dup | GRCh37 |
| NC_000017.9:g.35075548_35075565dup | NCBI36 |
| NG_008892.1:g.5424_5441dup , LRG_210:g.5424_5441dup | |
| NG_042278.1:g.2789_2806dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309889.3:c.164_181dup MANE Select | ENSP00000312624.2:p.Leu60_Val61insGlyGlnC... | |
| ENST00000309889.2:c.164_181dup | ENSP00000312624.2:p.Leu60_Val61insGlyGlnC... | |
| ENST00000578283.1:c.164_174+7dup | ||
| NM_003673.3:c.164_181dup , LRG_210t1:c.164_181dup | NP_003664.1:p.Leu60_Val61insGlyGlnCysGlnV... | |
| NM_003673.4:c.164_181dup MANE Select | NP_003664.1:p.Leu60_Val61insGlyGlnCysGlnV... |