Linked Data
dbSNP Id:
rs755419795
ExAC:
12:52310021 AG / A
gnomAD v2:
12-52310021-AG-A
gnomAD v4:
12-51916237-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916240del , CM000674.2:g.51916240del | GRCh38 |
| NC_000012.11:g.52310024del , CM000674.1:g.52310024del | GRCh37 |
| NC_000012.10:g.50596291del | NCBI36 |
| NG_009549.1:g.13823del , LRG_543:g.13823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.976+7del | ENSP00000446724.2:n.976+7del | |
| ENST00000551576.6:c.1246+7del | ENSP00000455848.2:n.1246+7del | |
| ENST00000552678.2:c.1246+7del | ENSP00000457394.2:n.1246+7del | |
| ENST00000388922.9:c.1246+7del MANE Select | ENSP00000373574.4:n.1246+7del | |
| ENST00000388922.8:c.1246+7del | ENSP00000373574.4:n.1246+7del | |
| ENST00000419526.6:c.724+7del | ENSP00000392492.2:n.724+7del | |
| ENST00000547632.1:n.521+7del | ||
| ENST00000550683.5:c.1288+7del | ENSP00000447884.1:n.1288+7del | |
| ENST00000552678.1:c.251+7del | ||
| NM_000020.2:c.1246+7del , LRG_543t1:c.1246+7del | NP_000011.2:n.1246+7del | |
| NM_001077401.1:c.1246+7del | NP_001070869.1:n.1246+7del | |
| XM_005269235.2:c.1246+7del | XP_005269292.1:n.1246+7del | |
| XM_011539008.1:c.976+7del | XP_011537310.1:n.976+7del | |
| XM_024449279.1:c.457+7del | XP_024305047.1:n.457+7del | |
| NM_000020.3:c.1246+7del MANE Select | NP_000011.2:n.1246+7del | |
| NM_001077401.2:c.1246+7del | NP_001070869.1:n.1246+7del |