Linked Data
ClinVar Variation Id:
1936681
ClinVar RCV Id:
RCV002658084
dbSNP Id:
rs776218908
ExAC:
4:119652681 AAG / A
gnomAD v2:
4-119652681-AAG-A
gnomAD v4:
4-118731526-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118731529_118731530del , CM000666.2:g.118731529_118731530del | GRCh38 |
| NC_000004.11:g.119652684_119652685del , CM000666.1:g.119652684_119652685del | GRCh37 |
| NC_000004.10:g.119872132_119872133del | NCBI36 |
| NG_042032.1:g.109644_109645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2677-21_2677-20del MANE Select | ENSP00000280551.6:n.2677-21_2677-20del | |
| ENST00000280551.10:c.2677-21_2677-20del | ENSP00000280551.6:n.2677-21_2677-20del | |
| ENST00000505134.5:n.2808-21_2808-20del | ||
| ENST00000511481.5:c.1570-21_1570-20del | ENSP00000425491.1:n.1570-21_1570-20del | |
| ENST00000511715.1:n.584-21_584-20del | ||
| NM_014822.2:c.2677-21_2677-20del | NP_055637.2:n.2677-21_2677-20del | |
| XM_005263378.1:c.2680-21_2680-20del | XP_005263435.1:n.2680-21_2680-20del | |
| XM_005263379.1:c.2680-21_2680-20del | XP_005263436.1:n.2680-21_2680-20del | |
| XM_011532435.1:c.2680-21_2680-20del | XP_011530737.1:n.2680-21_2680-20del | |
| XM_011532437.1:c.1345-21_1345-20del | XP_011530739.1:n.1345-21_1345-20del | |
| NM_001318066.1:c.2680-21_2680-20del | NP_001304995.1:n.2680-21_2680-20del | |
| NM_014822.3:c.2677-21_2677-20del | NP_055637.2:n.2677-21_2677-20del | |
| XM_005263379.3:c.2680-21_2680-20del | XP_005263436.1:n.2680-21_2680-20del | |
| XM_017008875.1:c.1345-21_1345-20del | XP_016864364.1:n.1345-21_1345-20del | |
| XM_024454293.1:c.2677-21_2677-20del | XP_024310061.1:n.2677-21_2677-20del | |
| NM_014822.4:c.2677-21_2677-20del MANE Select | NP_055637.2:n.2677-21_2677-20del | |
| NM_001318066.2:c.2680-21_2680-20del | NP_001304995.1:n.2680-21_2680-20del |