Linked Data
dbSNP Id:
rs1554211984
ExAC:
6:31324489 C / CAGGA
gnomAD v3:
6-31356712-C-CAGGA
gnomAD v4:
6-31356712-C-CAGGA
MyVariant Identifiers:
chr6:g.31324489_31324490insAGGA (hg19)
chr6:g.31356712_31356713insAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356712_31356713insAGGA , CM000668.2:g.31356712_31356713insAGGA | GRCh38 |
| NC_000006.11:g.31324489_31324490insAGGA , CM000668.1:g.31324489_31324490insAGGA | GRCh37 |
| NC_000006.10:g.31432468_31432469insAGGA | NCBI36 |
| NG_023187.1:g.5500_5501insTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1791_1792insTCCT | ||
| ENST00000481849.6:n.1791_1792insTCCT | ||
| ENST00000497377.6:n.1791_1792insTCCT | ||
| ENST00000640094.2:c.318_319insTCCT | ENSP00000491275.2:p.Gly107SerfsTer? | |
| ENST00000696558.1:c.318_319insTCCT | ENSP00000512716.1:p.Gly107SerfsTer? | |
| ENST00000696559.1:c.318_319insTCCT | ENSP00000512717.1:p.Gly107SerfsTer? | |
| ENST00000696560.1:c.318_319insTCCT | ENSP00000512718.1:p.Gly107SerfsTer? | |
| ENST00000696561.1:c.318_319insTCCT | ENSP00000512719.1:p.Gly107SerfsTer? | |
| ENST00000696562.1:c.318_319insTCCT | ENSP00000512720.1:p.Gly107SerfsTer? | |
| ENST00000412585.7:c.318_319insTCCT MANE Select | ENSP00000399168.2:p.Gly107SerfsTer? | |
| ENST00000412585.6:c.318_319insTCCT | ENSP00000399168.2:p.Gly107SerfsTer? | |
| ENST00000434333.1:c.351_352insTCCT | ENSP00000405931.1:p.Gly118SerfsTer? | |
| ENST00000474381.1:n.193_194insTCCT | ||
| ENST00000498007.1:n.339_340insTCCT | ||
| ENST00000603274.1:n.66_67insAGGA | ||
| NM_005514.6:c.318_319insTCCT | NP_005505.2:p.Gly107SerfsTer? | |
| XM_011514556.1:c.351_352insTCCT | XP_011512858.1:p.Gly118SerfsTer? | |
| XM_011514557.1:c.318_319insTCCT | XP_011512859.1:p.Gly107SerfsTer? | |
| XR_926175.1:n.328_329insTCCT | ||
| NM_005514.7:c.318_319insTCCT | NP_005505.2:p.Gly107SerfsTer? | |
| NM_005514.8:c.318_319insTCCT MANE Select | NP_005505.2:p.Gly107SerfsTer? |