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
ClinVar Variation Id:
92779
dbSNP Id:
rs398123303
ExAC:
6:42937433 GCA / G
gnomAD v2:
6-42937433-GCA-G
gnomAD v4:
6-42969695-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969698_42969699del , CM000668.2:g.42969698_42969699del | GRCh38 |
| NC_000006.11:g.42937436_42937437del , CM000668.1:g.42937436_42937437del | GRCh37 |
| NC_000006.10:g.43045414_43045415del | NCBI36 |
| NG_008370.1:g.14547_14548del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304611.13:c.1338_1339del MANE Select | ENSP00000303511.8:p.Ala447CysfsTer17 | |
| ENST00000244546.4:c.1338_1339del | ENSP00000244546.4:p.Ala447CysfsTer17 | |
| ENST00000304611.12:c.1338_1339del | ENSP00000303511.8:p.Ala447CysfsTer17 | |
| NM_000287.3:c.1338_1339del | NP_000278.3:p.Ala447CysfsTer17 | |
| NM_001316313.1:c.1074_1075del | NP_001303242.1:p.Ala359CysfsTer17 | |
| NR_133009.1:n.1431_1432del | ||
| XM_011514661.1:c.1254_1255del | XP_011512963.1:p.Ala419CysfsTer17 | |
| XR_926246.1:n.1431_1432del | ||
| XM_011514661.2:c.1254_1255del | XP_011512963.1:p.Ala419CysfsTer17 | |
| XR_001743466.2:n.2412_2413del | ||
| NM_000287.4:c.1338_1339del MANE Select | NP_000278.3:p.Ala447CysfsTer17 | |
| NM_001316313.2:c.1074_1075del | NP_001303242.1:p.Ala359CysfsTer17 | |
| NR_133009.2:n.1369_1370del |