Linked Data
dbSNP Id:
rs779508748
ExAC:
12:13761776 CAA / C
gnomAD v2:
12-13761776-CAA-C
gnomAD v4:
12-13608842-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13608846_13608847del , CM000674.2:g.13608846_13608847del | GRCh38 |
| NC_000012.11:g.13761780_13761781del , CM000674.1:g.13761780_13761781del | GRCh37 |
| NC_000012.10:g.13653047_13653048del | NCBI36 |
| NG_031854.1:g.376245_376246del | |
| NG_031854.2:g.378169_378170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1781-12_1781-11del MANE Select | ENSP00000477455.1:n.1781-12_1781-11del | |
| ENST00000628166.2:n.41-12_41-11del | ||
| ENST00000609686.3:c.1781-12_1781-11del | ENSP00000477455.1:n.1781-12_1781-11del | |
| ENST00000628166.1:n.41-12_41-11del | ||
| NM_000834.3:c.1781-12_1781-11del | NP_000825.2:n.1781-12_1781-11del | |
| XM_011520628.1:c.1781-12_1781-11del | XP_011518930.1:n.1781-12_1781-11del | |
| XM_011520629.1:c.1781-12_1781-11del | XP_011518931.1:n.1781-12_1781-11del | |
| XM_011520630.1:c.1781-12_1781-11del | XP_011518932.1:n.1781-12_1781-11del | |
| XR_931372.1:n.179-6252_179-6251del | ||
| XR_931373.1:n.318+89_318+90del | ||
| NM_000834.4:c.1781-12_1781-11del | NP_000825.2:n.1781-12_1781-11del | |
| XM_011520628.2:c.1781-12_1781-11del | XP_011518930.1:n.1781-12_1781-11del | |
| XM_011520629.2:c.1781-12_1781-11del | XP_011518931.1:n.1781-12_1781-11del | |
| XM_017019219.2:c.1781-12_1781-11del | XP_016874708.1:n.1781-12_1781-11del | |
| XR_001749013.1:n.457+89_457+90del | ||
| XR_931372.2:n.316-6252_316-6251del | ||
| XR_931373.2:n.457+89_457+90del | ||
| NM_000834.5:c.1781-12_1781-11del MANE Select | NP_000825.2:n.1781-12_1781-11del |