Linked Data
dbSNP Id:
rs1199877636
gnomAD v2:
2-47657202-T-TA
gnomAD v3:
2-47430063-T-TA
gnomAD v4:
2-47430063-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47430063_47430064insA , CM000664.2:g.47430063_47430064insA | GRCh38 |
| NC_000002.11:g.47657202_47657203insA , CM000664.1:g.47657202_47657203insA | GRCh37 |
| NC_000002.10:g.47510706_47510707insA | NCBI36 |
| NG_007110.2:g.31940_31941insA , LRG_218:g.31940_31941insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1276+122_1276+123insA | ENSP00000495641.2:n.1276+122_1276+123insA | |
| ENST00000233146.7:c.1276+122_1276+123insA MANE Select | ENSP00000233146.2:n.1276+122_1276+123insA | |
| ENST00000543555.6:c.1078+122_1078+123insA | ENSP00000442697.1:n.1078+122_1078+123insA | |
| ENST00000644092.1:c.1276+122_1276+123insA | ENSP00000496351.1:n.1276+122_1276+123insA | |
| ENST00000645339.1:c.1276+122_1276+123insA | ENSP00000496441.1:n.1276+122_1276+123insA | |
| ENST00000645506.1:c.1276+122_1276+123insA | ENSP00000495455.1:n.1276+122_1276+123insA | |
| ENST00000646415.1:c.1276+122_1276+123insA | ENSP00000495543.1:n.1276+122_1276+123insA | |
| ENST00000233146.6:c.1276+122_1276+123insA | ENSP00000233146.2:n.1276+122_1276+123insA | |
| ENST00000406134.5:c.1276+122_1276+123insA | ENSP00000384199.1:n.1276+122_1276+123insA | |
| ENST00000543555.5:c.1078+122_1078+123insA | ENSP00000442697.1:n.1078+122_1078+123insA | |
| ENST00000610696.4:c.1276+122_1276+123insA | ENSP00000483159.1:n.1276+122_1276+123insA | |
| ENST00000613514.4:c.1276+122_1276+123insA | ENSP00000484137.1:n.1276+122_1276+123insA | |
| ENST00000617333.3:c.*42+122_*42+123insA | ENSP00000482468.1:n.*42+122_*42+123insA | |
| ENST00000617938.4:c.*248+122_*248+123insA | ENSP00000481158.1:n.*248+122_*248+123insA | |
| ENST00000621359.2:c.1276+122_1276+123insA | ENSP00000481416.1:n.1276+122_1276+123insA | |
| NM_000251.2:c.1276+122_1276+123insA , LRG_218t1:c.1276+122_1276+123insA | NP_000242.1:n.1276+122_1276+123insA | |
| NM_001258281.1:c.1078+122_1078+123insA | NP_001245210.1:n.1078+122_1078+123insA | |
| XM_005264332.2:c.1276+122_1276+123insA | XP_005264389.2:n.1276+122_1276+123insA | |
| XM_011532867.1:c.1276+122_1276+123insA | XP_011531169.1:n.1276+122_1276+123insA | |
| XR_939685.1:n.1348+122_1348+123insA | ||
| XM_005264332.4:c.1276+122_1276+123insA | XP_005264389.2:n.1276+122_1276+123insA | |
| XM_011532867.2:c.1276+122_1276+123insA | XP_011531169.1:n.1276+122_1276+123insA | |
| XR_001738747.2:n.1338+122_1338+123insA | ||
| XR_939685.2:n.1338+122_1338+123insA | ||
| NM_000251.3:c.1276+122_1276+123insA MANE Select | NP_000242.1:n.1276+122_1276+123insA |