Linked Data
dbSNP Id:
rs757086563
ExAC:
19:11218136 T / TA
gnomAD v2:
19-11218136-T-TA
gnomAD v4:
19-11107460-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107460_11107461insA , CM000681.2:g.11107460_11107461insA | GRCh38 |
| NC_000019.9:g.11218136_11218137insA , CM000681.1:g.11218136_11218137insA | GRCh37 |
| NC_000019.8:g.11079136_11079137insA | NCBI36 |
| NG_009060.1:g.23080_23081insA , LRG_274:g.23080_23081insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1144_1145insA | ENSP00000252444.6:p.Cys382Ter | |
| ENST00000559340.2:c.886_887insA | ENSP00000453696.2:p.Cys296Ter | |
| ENST00000560467.2:c.886_887insA | ENSP00000453513.2:p.Cys296Ter | |
| ENST00000558518.6:c.886_887insA MANE Select | ENSP00000454071.1:p.Cys296Ter | |
| ENST00000252444.9:c.1140_1141insA | ||
| ENST00000455727.6:c.382_383insA | ENSP00000397829.2:p.Cys128Ter | |
| ENST00000535915.5:c.763_764insA | ENSP00000440520.1:p.Cys255Ter | |
| ENST00000545707.5:c.505_506insA | ENSP00000437639.1:p.Cys169Ter | |
| ENST00000557933.5:c.886_887insA | ENSP00000453557.1:p.Cys296Ter | |
| ENST00000558013.5:c.886_887insA | ENSP00000453346.1:p.Cys296Ter | |
| ENST00000558518.5:c.886_887insA | ENSP00000454071.1:p.Cys296Ter | |
| ENST00000558528.1:n.401_402insA | ||
| ENST00000560467.1:c.486_487insA | ||
| NM_000527.4:c.886_887insA , LRG_274t1:c.886_887insA | NP_000518.1:p.Cys296Ter | |
| NM_001195798.1:c.886_887insA | NP_001182727.1:p.Cys296Ter | |
| NM_001195799.1:c.763_764insA | NP_001182728.1:p.Cys255Ter | |
| NM_001195800.1:c.382_383insA | NP_001182729.1:p.Cys128Ter | |
| NM_001195803.1:c.505_506insA | NP_001182732.1:p.Cys169Ter | |
| XM_011528010.1:c.886_887insA | XP_011526312.1:p.Cys296Ter | |
| XM_011528011.1:c.505_506insA | XP_011526313.1:p.Cys169Ter | |
| XR_244074.2:n.1036_1037insA | ||
| XM_011528010.2:c.886_887insA | XP_011526312.1:p.Cys296Ter | |
| XR_001753685.2:n.1003_1004insA | ||
| XR_001753686.2:n.1003_1004insA | ||
| NM_000527.5:c.886_887insA MANE Select | NP_000518.1:p.Cys296Ter | |
| NM_001195798.2:c.886_887insA | NP_001182727.1:p.Cys296Ter | |
| NM_001195799.2:c.763_764insA | NP_001182728.1:p.Cys255Ter | |
| NM_001195800.2:c.382_383insA | NP_001182729.1:p.Cys128Ter | |
| NM_001195803.2:c.505_506insA | NP_001182732.1:p.Cys169Ter |