Linked Data
ClinVar Variation Id:
371738
dbSNP Id:
rs62642859
ExAC:
17:33903193 CACTA / C
gnomAD v2:
17-33903193-CACTA-C
gnomAD v4:
17-35576174-CACTA-C
MyVariant Identifiers:
chr17:g.33903194_33903197del (hg19)
chr17:g.35576176_35576179del (hg38)
chr17:g.35576175_35576178del (hg38)
PubMed:
PMID:9090384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576177_35576180del , CM000679.2:g.35576177_35576180del | GRCh38 |
| NC_000017.10:g.33903196_33903199del , CM000679.1:g.33903196_33903199del | GRCh37 |
| NC_000017.9:g.30927309_30927312del | NCBI36 |
| NG_008447.1:g.7460_7463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.684_687del MANE Select | ENSP00000225873.3:p.Ser229ArgfsTer3 | |
| ENST00000586663.2:c.684_687del | ENSP00000466894.2:p.Ser229ArgfsTer3 | |
| ENST00000225873.8:c.684_687del | ENSP00000225873.3:p.Ser229ArgfsTer3 | |
| ENST00000586663.1:c.684_687del | ENSP00000466894.1:p.Ser229ArgfsTer3 | |
| ENST00000613219.4:c.684_687del | ENSP00000482609.1:p.Ser229ArgfsTer3 | |
| NM_000286.2:c.684_687del | NP_000277.1:p.Ser229ArgfsTer3 | |
| NM_000286.3:c.684_687del MANE Select | NP_000277.1:p.Ser229ArgfsTer3 |