Linked Data
ClinVar Variation Id:
847513
ClinVar RCV Id:
RCV001051076
dbSNP Id:
rs756850884
ExAC:
7:21639709 CA / C
gnomAD v2:
7-21639709-CA-C
gnomAD v3:
7-21600091-CA-C
gnomAD v4:
7-21600091-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21600093del , CM000669.2:g.21600093del | GRCh38 |
| NC_000007.13:g.21639711del , CM000669.1:g.21639711del | GRCh37 |
| NC_000007.12:g.21606236del | NCBI36 |
| NG_012886.2:g.61879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2974del MANE Select | ENSP00000475939.1:p.Thr992HisfsTer16 | |
| ENST00000328843.10:c.2974del | ENSP00000330671.7:p.Thr992HisfsTer16 | |
| ENST00000409508.7:c.2974del | ENSP00000475939.1:p.Thr992HisfsTer16 | |
| ENST00000620169.4:c.2974del | ENSP00000481693.1:p.Thr992HisfsTer16 | |
| NM_001277115.1:c.2974del | NP_001264044.1:p.Thr992HisfsTer16 | |
| NM_001277115.2:c.2974del MANE Select | NP_001264044.1:p.Thr992HisfsTer16 |