Linked Data
ClinVar Variation Id:
363395
ClinVar RCV Id:
RCV000263933
dbSNP Id:
rs886063016
gnomAD v4:
8-56963376-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56963379_56963380del , CM000670.2:g.56963379_56963380del | GRCh38 |
| NC_000008.10:g.57875938_57875939del , CM000670.1:g.57875938_57875939del | GRCh37 |
| NC_000008.9:g.58038492_58038493del | NCBI36 |
| NG_031926.1:g.35494_35495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262644.9:c.*415_*416del MANE Select | ENSP00000262644.4:n.*415_*416del | |
| ENST00000262644.8:c.*415_*416del | ENSP00000262644.4:n.*415_*416del | |
| NM_017813.4:c.*415_*416del | NP_060283.3:n.*415_*416del | |
| XR_928786.2:n.1893_1894del | ||
| NM_017813.5:c.*415_*416del MANE Select | NP_060283.3:n.*415_*416del |