Linked Data
ClinVar Variation Id:
287499
dbSNP Id:
rs764771123
ExAC:
8:77896069 ACCACCTG / A
gnomAD v2:
8-77896069-ACCACCTG-A
gnomAD v3:
8-76983833-ACCACCTG-A
gnomAD v4:
8-76983833-ACCACCTG-A
MyVariant Identifiers:
chr8:g.77896070_77896076del (hg19)
chr8:g.76983835_76983841del (hg38)
chr8:g.76983834_76983840del (hg38)
PubMed:
PMID:21031596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983839_76983845del , CM000670.2:g.76983839_76983845del | GRCh38 |
| NC_000008.10:g.77896075_77896081del , CM000670.1:g.77896075_77896081del | GRCh37 |
| NC_000008.9:g.78058630_78058636del | NCBI36 |
| NG_008371.1:g.21449_21455del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.339_345del MANE Select | ENSP00000349543.4:p.Arg114Ter | |
| ENST00000357039.8:c.339_345del | ENSP00000349543.4:p.Arg114Ter | |
| ENST00000518986.5:c.339_345del | ENSP00000429304.1:p.Arg114Ter | |
| ENST00000520103.5:c.339_345del | ENSP00000428590.1:p.Arg114Ter | |
| ENST00000522527.5:c.339_345del | ENSP00000428638.1:p.Arg114Ter | |
| NM_000318.2:c.339_345del | NP_000309.1:p.Arg114Ter | |
| NM_001079867.1:c.339_345del | NP_001073336.1:p.Arg114Ter | |
| NM_001172086.1:c.339_345del | NP_001165557.1:p.Arg114Ter | |
| NM_001172087.1:c.339_345del | NP_001165558.1:p.Arg114Ter | |
| NM_000318.3:c.339_345del MANE Select | NP_000309.2:p.Arg114Ter | |
| NM_001079867.2:c.339_345del | NP_001073336.2:p.Arg114Ter | |
| NM_001172086.2:c.339_345del | NP_001165557.2:p.Arg114Ter | |
| NM_001172087.2:c.339_345del | NP_001165558.2:p.Arg114Ter |