Linked Data
dbSNP Id:
rs779213759
ExAC:
6:31324529 G / GC
gnomAD v2:
6-31324529-G-GC
gnomAD v3:
6-31356752-G-GC
gnomAD v4:
6-31356752-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356752_31356753insC , CM000668.2:g.31356752_31356753insC | GRCh38 |
| NC_000006.11:g.31324529_31324530insC , CM000668.1:g.31324529_31324530insC | GRCh37 |
| NC_000006.10:g.31432508_31432509insC | NCBI36 |
| NG_023187.1:g.5460_5461insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1751_1752insG | ||
| ENST00000481849.6:n.1751_1752insG | ||
| ENST00000497377.6:n.1751_1752insG | ||
| ENST00000640094.2:c.278_279insG | ENSP00000491275.2:p.Gln94ProfsTer5 | |
| ENST00000696558.1:c.278_279insG | ENSP00000512716.1:p.Gln94ProfsTer5 | |
| ENST00000696559.1:c.278_279insG | ENSP00000512717.1:p.Gln94ProfsTer5 | |
| ENST00000696560.1:c.278_279insG | ENSP00000512718.1:p.Gln94ProfsTer5 | |
| ENST00000696561.1:c.278_279insG | ENSP00000512719.1:p.Gln94ProfsTer5 | |
| ENST00000696562.1:c.278_279insG | ENSP00000512720.1:p.Gln94ProfsTer5 | |
| ENST00000412585.7:c.278_279insG MANE Select | ENSP00000399168.2:p.Gln94ProfsTer5 | |
| ENST00000412585.6:c.278_279insG | ENSP00000399168.2:p.Gln94ProfsTer5 | |
| ENST00000434333.1:c.311_312insG | ENSP00000405931.1:p.Gln105ProfsTer5 | |
| ENST00000474381.1:n.153_154insG | ||
| ENST00000498007.1:n.299_300insG | ||
| ENST00000603274.1:n.106_107insC | ||
| NM_005514.6:c.278_279insG | NP_005505.2:p.Gln94ProfsTer5 | |
| XM_011514556.1:c.311_312insG | XP_011512858.1:p.Gln105ProfsTer5 | |
| XM_011514557.1:c.278_279insG | XP_011512859.1:p.Gln94ProfsTer5 | |
| XR_926175.1:n.288_289insG | ||
| NM_005514.7:c.278_279insG | NP_005505.2:p.Gln94ProfsTer5 | |
| NM_005514.8:c.278_279insG MANE Select | NP_005505.2:p.Gln94ProfsTer5 |