Linked Data
dbSNP Id:
rs373237958
gnomAD v2:
19-11218887-ACT-A
gnomAD v3:
19-11108211-ACT-A
gnomAD v4:
19-11108211-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11108214_11108215del , CM000681.2:g.11108214_11108215del | GRCh38 |
| NC_000019.9:g.11218890_11218891del , CM000681.1:g.11218890_11218891del | GRCh37 |
| NC_000019.8:g.11079890_11079891del | NCBI36 |
| NG_009060.1:g.23834_23835del , LRG_274:g.23834_23835del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1198+700_1198+701del | ENSP00000252444.6:n.1198+700_1198+701del | |
| ENST00000559340.2:c.940+700_940+701del | ENSP00000453696.2:n.940+700_940+701del | |
| ENST00000560467.2:c.940+700_940+701del | ENSP00000453513.2:n.940+700_940+701del | |
| ENST00000558518.6:c.940+700_940+701del MANE Select | ENSP00000454071.1:n.940+700_940+701del | |
| ENST00000252444.9:c.1194+700_1194+701del | ||
| ENST00000455727.6:c.436+700_436+701del | ENSP00000397829.2:n.436+700_436+701del | |
| ENST00000535915.5:c.817+700_817+701del | ENSP00000440520.1:n.817+700_817+701del | |
| ENST00000545707.5:c.559+700_559+701del | ENSP00000437639.1:n.559+700_559+701del | |
| ENST00000557933.5:c.940+700_940+701del | ENSP00000453557.1:n.940+700_940+701del | |
| ENST00000558013.5:c.940+700_940+701del | ENSP00000453346.1:n.940+700_940+701del | |
| ENST00000558518.5:c.940+700_940+701del | ENSP00000454071.1:n.940+700_940+701del | |
| ENST00000560467.1:c.540+700_540+701del | ||
| NM_000527.4:c.940+700_940+701del , LRG_274t1:c.940+700_940+701del | NP_000518.1:n.940+700_940+701del | |
| NM_001195798.1:c.940+700_940+701del | NP_001182727.1:n.940+700_940+701del | |
| NM_001195799.1:c.817+700_817+701del | NP_001182728.1:n.817+700_817+701del | |
| NM_001195800.1:c.436+700_436+701del | NP_001182729.1:n.436+700_436+701del | |
| NM_001195803.1:c.559+700_559+701del | NP_001182732.1:n.559+700_559+701del | |
| XM_011528010.1:c.940+700_940+701del | XP_011526312.1:n.940+700_940+701del | |
| XM_011528011.1:c.559+700_559+701del | XP_011526313.1:n.559+700_559+701del | |
| XR_244074.2:n.1090+700_1090+701del | ||
| XM_011528010.2:c.940+700_940+701del | XP_011526312.1:n.940+700_940+701del | |
| XR_001753685.2:n.1057+700_1057+701del | ||
| XR_001753686.2:n.1057+700_1057+701del | ||
| NM_000527.5:c.940+700_940+701del MANE Select | NP_000518.1:n.940+700_940+701del | |
| NM_001195798.2:c.940+700_940+701del | NP_001182727.1:n.940+700_940+701del | |
| NM_001195799.2:c.817+700_817+701del | NP_001182728.1:n.817+700_817+701del | |
| NM_001195800.2:c.436+700_436+701del | NP_001182729.1:n.436+700_436+701del | |
| NM_001195803.2:c.559+700_559+701del | NP_001182732.1:n.559+700_559+701del |