Linked Data
dbSNP Id:
rs1451024309
gnomAD v2:
12-91501006-AG-A
gnomAD v3:
12-91107229-AG-A
gnomAD v4:
12-91107229-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107230del , CM000674.2:g.91107230del | GRCh38 |
| NC_000012.11:g.91501007del , CM000674.1:g.91501007del | GRCh37 |
| NC_000012.10:g.90025138del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+888del MANE Select | ENSP00000266718.4:n.862+888del | |
| ENST00000266718.4:c.862+888del | ENSP00000266718.4:n.862+888del | |
| ENST00000546642.1:n.612+888del | ||
| ENST00000548071.1:n.255+888del | ||
| NM_002345.3:c.862+888del | NP_002336.1:n.862+888del | |
| NM_002345.4:c.862+888del MANE Select | NP_002336.1:n.862+888del |