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:
2969683
ClinVar RCV Id:
RCV003821817
dbSNP Id:
rs769074792
ExAC:
9:12695536 TAAGTA / T
gnomAD v2:
9-12695536-TAAGTA-T
gnomAD v4:
9-12695536-TAAGTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695540_12695544del , CM000671.2:g.12695540_12695544del | GRCh38 |
| NC_000009.11:g.12695540_12695544del , CM000671.1:g.12695540_12695544del | GRCh37 |
| NC_000009.10:g.12685540_12685544del | NCBI36 |
| NG_011705.1:g.7155_7159del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388918.10:c.411_415del MANE Select | ENSP00000373570.4:p.Ser137ArgfsTer? | |
| ENST00000388918.9:c.411_415del | ENSP00000373570.4:p.Ser137ArgfsTer? | |
| NM_000550.2:c.411_415del | NP_000541.1:p.Ser137ArgfsTer? | |
| XR_001746372.2:n.600_604del | ||
| NM_000550.3:c.411_415del MANE Select | NP_000541.1:p.Ser137ArgfsTer? |