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:
1508662
ClinVar RCV Id:
RCV002016265
dbSNP Id:
rs2151214541
gnomAD v2:
15-73615781-C-CG
gnomAD v4:
15-73323440-C-CG
COSMIC:
COSM4614142
MyVariant Identifiers:
chr15:g.73615781_73615782insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323446dup , CM000677.2:g.73323446dup | GRCh38 |
| NC_000015.9:g.73615787dup , CM000677.1:g.73615787dup | GRCh37 |
| NC_000015.8:g.71402840dup | NCBI36 |
| NG_009063.1:g.50824dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2652dup MANE Select | ENSP00000261917.3:p.Gly885ArgfsTer? | |
| ENST00000261917.3:c.2652dup | ENSP00000261917.3:p.Gly885ArgfsTer? | |
| NM_005477.2:c.2652dup | NP_005468.1:p.Gly885ArgfsTer? | |
| XM_011521148.1:c.1434dup | XP_011519450.1:p.Gly479ArgfsTer? | |
| XM_011521148.2:c.1434dup | XP_011519450.1:p.Gly479ArgfsTer? | |
| NM_005477.3:c.2652dup MANE Select | NP_005468.1:p.Gly885ArgfsTer? |