UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
92411
dbSNP Id:
rs398123146
gnomAD v4:
15-42360025-C-CT
MyVariant Identifiers:
chr15:g.42652226dup (hg19)
chr15:g.42652226dupT (hg19)
chr15:g.42652223_42652224insT (hg19)
chr15:g.42360028dupT (hg38)
chr15:g.42360025_42360026insT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42360028dup , CM000677.2:g.42360028dup | GRCh38 |
| NC_000015.9:g.42652226dup , CM000677.1:g.42652226dup | GRCh37 |
| NC_000015.8:g.40439518dup | NCBI36 |
| NG_008660.1:g.16926dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.223dup | ENSP00000183936.4:p.Tyr75LeufsTer5 | |
| ENST00000357568.8:c.223dup | ENSP00000350181.3:p.Tyr75LeufsTer5 | |
| ENST00000397163.8:c.223dup MANE Select | ENSP00000380349.3:p.Tyr75LeufsTer5 | |
| ENST00000466369.5:n.540+5575dup | ||
| ENST00000483208.5:n.540+5575dup | ||
| ENST00000495723.1:n.540+5575dup | ||
| ENST00000549793.5:n.540+5575dup | ||
| ENST00000318023.11:c.223dup | ENSP00000326281.8:p.Tyr75LeufsTer5 | |
| ENST00000349748.7:c.223dup | ENSP00000183936.4:p.Tyr75LeufsTer5 | |
| ENST00000357568.7:c.223dup | ENSP00000350181.3:p.Tyr75LeufsTer5 | |
| ENST00000397163.7:c.223dup | ENSP00000380349.3:p.Tyr75LeufsTer5 | |
| NM_000070.2:c.223dup | NP_000061.1:p.Tyr75LeufsTer5 | |
| NM_024344.1:c.223dup | NP_077320.1:p.Tyr75LeufsTer5 | |
| NM_173087.1:c.223dup | NP_775110.1:p.Tyr75LeufsTer5 | |
| NM_000070.3:c.223dup MANE Select | NP_000061.1:p.Tyr75LeufsTer5 | |
| NM_024344.2:c.223dup | NP_077320.1:p.Tyr75LeufsTer5 | |
| NM_173087.2:c.223dup | NP_775110.1:p.Tyr75LeufsTer5 |