Linked Data
ClinVar Variation Id:
3055858
ClinVar RCV Id:
RCV003976513
dbSNP Id:
rs375356947
ExAC:
6:31324488 C / CGG
gnomAD v2:
6-31324488-C-CGG
gnomAD v3:
6-31356711-C-CGG
gnomAD v4:
6-31356711-C-CGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356711_31356712insGG , CM000668.2:g.31356711_31356712insGG | GRCh38 |
| NC_000006.11:g.31324488_31324489insGG , CM000668.1:g.31324488_31324489insGG | GRCh37 |
| NC_000006.10:g.31432467_31432468insGG | NCBI36 |
| NG_023187.1:g.5501_5502insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1792_1793insCC | ||
| ENST00000481849.6:n.1792_1793insCC | ||
| ENST00000497377.6:n.1792_1793insCC | ||
| ENST00000640094.2:c.319_320insCC | ENSP00000491275.2:p.Gly107AlafsTer? | |
| ENST00000696558.1:c.319_320insCC | ENSP00000512716.1:p.Gly107AlafsTer? | |
| ENST00000696559.1:c.319_320insCC | ENSP00000512717.1:p.Gly107AlafsTer? | |
| ENST00000696560.1:c.319_320insCC | ENSP00000512718.1:p.Gly107AlafsTer? | |
| ENST00000696561.1:c.319_320insCC | ENSP00000512719.1:p.Gly107AlafsTer? | |
| ENST00000696562.1:c.319_320insCC | ENSP00000512720.1:p.Gly107AlafsTer? | |
| ENST00000412585.7:c.319_320insCC MANE Select | ENSP00000399168.2:p.Gly107AlafsTer? | |
| ENST00000412585.6:c.319_320insCC | ENSP00000399168.2:p.Gly107AlafsTer? | |
| ENST00000434333.1:c.352_353insCC | ENSP00000405931.1:p.Gly118AlafsTer? | |
| ENST00000474381.1:n.194_195insCC | ||
| ENST00000498007.1:n.340_341insCC | ||
| ENST00000603274.1:n.65_66insGG | ||
| NM_005514.6:c.319_320insCC | NP_005505.2:p.Gly107AlafsTer? | |
| XM_011514556.1:c.352_353insCC | XP_011512858.1:p.Gly118AlafsTer? | |
| XM_011514557.1:c.319_320insCC | XP_011512859.1:p.Gly107AlafsTer? | |
| XR_926175.1:n.329_330insCC | ||
| NM_005514.7:c.319_320insCC | NP_005505.2:p.Gly107AlafsTer? | |
| NM_005514.8:c.319_320insCC MANE Select | NP_005505.2:p.Gly107AlafsTer? |