Linked Data
dbSNP Id:
rs762806725
ExAC:
6:31324499 C / CGGTG
gnomAD v3:
6-31356722-C-CGGTG
gnomAD v4:
6-31356722-C-CGGTG
MyVariant Identifiers:
chr6:g.31324499_31324500insGGTG (hg19)
chr6:g.31356722_31356723insGGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356722_31356723insGGTG , CM000668.2:g.31356722_31356723insGGTG | GRCh38 |
| NC_000006.11:g.31324499_31324500insGGTG , CM000668.1:g.31324499_31324500insGGTG | GRCh37 |
| NC_000006.10:g.31432478_31432479insGGTG | NCBI36 |
| NG_023187.1:g.5490_5491insCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1781_1782insCACC | ||
| ENST00000481849.6:n.1781_1782insCACC | ||
| ENST00000497377.6:n.1781_1782insCACC | ||
| ENST00000640094.2:c.308_309insCACC | ENSP00000491275.2:p.Asn104ThrfsTer? | |
| ENST00000696558.1:c.308_309insCACC | ENSP00000512716.1:p.Asn104ThrfsTer? | |
| ENST00000696559.1:c.308_309insCACC | ENSP00000512717.1:p.Asn104ThrfsTer? | |
| ENST00000696560.1:c.308_309insCACC | ENSP00000512718.1:p.Asn104ThrfsTer? | |
| ENST00000696561.1:c.308_309insCACC | ENSP00000512719.1:p.Asn104ThrfsTer? | |
| ENST00000696562.1:c.308_309insCACC | ENSP00000512720.1:p.Asn104ThrfsTer? | |
| ENST00000412585.7:c.308_309insCACC MANE Select | ENSP00000399168.2:p.Asn104ThrfsTer? | |
| ENST00000412585.6:c.308_309insCACC | ENSP00000399168.2:p.Asn104ThrfsTer? | |
| ENST00000434333.1:c.341_342insCACC | ENSP00000405931.1:p.Asn115ThrfsTer? | |
| ENST00000474381.1:n.183_184insCACC | ||
| ENST00000498007.1:n.329_330insCACC | ||
| ENST00000603274.1:n.76_77insGGTG | ||
| NM_005514.6:c.308_309insCACC | NP_005505.2:p.Asn104ThrfsTer? | |
| XM_011514556.1:c.341_342insCACC | XP_011512858.1:p.Asn115ThrfsTer? | |
| XM_011514557.1:c.308_309insCACC | XP_011512859.1:p.Asn104ThrfsTer? | |
| XR_926175.1:n.318_319insCACC | ||
| NM_005514.7:c.308_309insCACC | NP_005505.2:p.Asn104ThrfsTer? | |
| NM_005514.8:c.308_309insCACC MANE Select | NP_005505.2:p.Asn104ThrfsTer? |