Linked Data
dbSNP Id:
rs1871303066
gnomAD v3:
12-111418759-TGGCCGACGA-T
gnomAD v4:
12-111418759-TGGCCGACGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111418764_111418772del , CM000674.2:g.111418764_111418772del | GRCh38 |
| NC_000012.11:g.111856568_111856576del , CM000674.1:g.111856568_111856576del | GRCh37 |
| NC_000012.10:g.110340951_110340959del | NCBI36 |
| NG_021216.1:g.17817_17825del , LRG_621:g.17817_17825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341259.7:c.619_627del MANE Select | ENSP00000345492.2:p.Asp207_Ala209del | |
| ENST00000341259.6:c.619_627del | ENSP00000345492.2:p.Asp207_Ala209del | |
| ENST00000550925.2:c.425_433del | ||
| NM_005475.2:c.619_627del , LRG_621t1:c.619_627del | NP_005466.1:p.Asp207_Ala209del | |
| XM_005253818.3:c.619_627del | XP_005253875.1:p.Asp207_Ala209del | |
| XM_005253819.3:c.619_627del | XP_005253876.1:p.Asp207_Ala209del | |
| XM_011537719.1:c.619_627del | XP_011536021.1:p.Asp207_Ala209del | |
| XM_011537720.1:c.619_627del | XP_011536022.1:p.Asp207_Ala209del | |
| XM_011537722.1:c.619_627del | XP_011536024.1:p.Asp207_Ala209del | |
| XM_005253818.4:c.619_627del | XP_005253875.1:p.Asp207_Ala209del | |
| XM_005253819.4:c.619_627del | XP_005253876.1:p.Asp207_Ala209del | |
| XM_011537719.2:c.619_627del | XP_011536021.1:p.Asp207_Ala209del | |
| XM_011537720.3:c.619_627del | XP_011536022.1:p.Asp207_Ala209del | |
| XM_024448790.1:c.619_627del | XP_024304558.1:p.Asp207_Ala209del | |
| XR_001748535.1:n.1020_1028del | ||
| XR_001748536.1:n.1019_1027del | ||
| XR_002957278.1:n.1016_1024del | ||
| NM_005475.3:c.619_627del MANE Select | NP_005466.1:p.Asp207_Ala209del |