Linked Data
dbSNP Id:
rs1373828464
gnomAD v2:
12-52307911-AG-A
gnomAD v3:
12-51914127-AG-A
gnomAD v4:
12-51914127-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51914131del , CM000674.2:g.51914131del | GRCh38 |
| NC_000012.11:g.52307915del , CM000674.1:g.52307915del | GRCh37 |
| NC_000012.10:g.50594182del | NCBI36 |
| NG_009549.1:g.11714del , LRG_543:g.11714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.356-308del | ENSP00000446724.2:n.356-308del | |
| ENST00000551576.6:c.625+58del | ENSP00000455848.2:n.625+58del | |
| ENST00000552678.2:c.625+58del | ENSP00000457394.2:n.625+58del | |
| ENST00000388922.9:c.625+58del MANE Select | ENSP00000373574.4:n.625+58del | |
| ENST00000388922.8:c.625+58del | ENSP00000373574.4:n.625+58del | |
| ENST00000419526.6:c.104-308del | ENSP00000392492.2:n.104-308del | |
| ENST00000547400.5:c.356-308del | ENSP00000446724.1:n.356-308del | |
| ENST00000550683.5:c.667+58del | ENSP00000447884.1:n.667+58del | |
| NM_000020.2:c.625+58del , LRG_543t1:c.625+58del | NP_000011.2:n.625+58del | |
| NM_001077401.1:c.625+58del | NP_001070869.1:n.625+58del | |
| XM_005269235.2:c.625+58del | XP_005269292.1:n.625+58del | |
| XM_011539008.1:c.356-308del | XP_011537310.1:n.356-308del | |
| XM_024449279.1:c.-164-308del | XP_024305047.1:n.-164-308del | |
| NM_000020.3:c.625+58del MANE Select | NP_000011.2:n.625+58del | |
| NM_001077401.2:c.625+58del | NP_001070869.1:n.625+58del |