Linked Data
ClinVar Variation Id:
2911846
ClinVar RCV Id:
RCV003738663
dbSNP Id:
rs772903026
ExAC:
15:72103930 CG / C
gnomAD v2:
15-72103930-CG-C
gnomAD v4:
15-71811590-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811592del , CM000677.2:g.71811592del | GRCh38 |
| NC_000015.9:g.72103932del , CM000677.1:g.72103932del | GRCh37 |
| NC_000015.8:g.69890986del | NCBI36 |
| NG_009113.2:g.6038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.228del MANE Select | ENSP00000482504.1:p.Arg77GlyfsTer29 | |
| ENST00000617575.4:c.228del | ENSP00000482504.1:p.Arg77GlyfsTer29 | |
| ENST00000621098.1:c.228del | ENSP00000479962.1:p.Arg77GlyfsTer29 | |
| ENST00000621736.4:c.-37del | ENSP00000479254.1:n.-37del | |
| NM_014249.3:c.228del | NP_055064.1:p.Arg77GlyfsTer29 | |
| NM_016346.3:c.228del | NP_057430.1:p.Arg77GlyfsTer29 | |
| XM_011521146.1:c.-37del | XP_011519448.1:n.-37del | |
| NM_014249.4:c.228del MANE Select | NP_055064.1:p.Arg77GlyfsTer29 | |
| NM_016346.4:c.228del | NP_057430.1:p.Arg77GlyfsTer29 |