Linked Data
dbSNP Id:
rs1371605183
gnomAD v2:
10-124221124-GC-G
gnomAD v3:
10-122461608-GC-G
gnomAD v4:
10-122461608-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461611del , CM000672.2:g.122461611del | GRCh38 |
| NC_000010.10:g.124221127del , CM000672.1:g.124221127del | GRCh37 |
| NC_000010.9:g.124211117del | NCBI36 |
| NG_011554.1:g.5087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-42del MANE Select | ENSP00000357980.3:n.-42del | |
| ENST00000648167.1:c.154+2902del | ENSP00000498033.1:n.154+2902del | |
| ENST00000368984.7:c.-42del | ENSP00000357980.3:n.-42del | |
| NM_002775.4:c.-42del | NP_002766.1:n.-42del | |
| NM_002775.5:c.-42del MANE Select | NP_002766.1:n.-42del |