Linked Data
gnomAD v2:
6-31323362-TG-T
gnomAD v3:
6-31355585-TG-T
gnomAD v4:
6-31355585-TG-T
COSMIC:
COSM1443264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355591del , CM000668.2:g.31355591del | GRCh38 |
| NC_000006.11:g.31323368del , CM000668.1:g.31323368del | GRCh37 |
| NC_000006.10:g.31431347del | NCBI36 |
| NG_023187.1:g.6627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2673del | ||
| ENST00000481849.6:n.2099del | ||
| ENST00000497377.6:n.2099del | ||
| ENST00000640094.2:c.626del | ENSP00000491275.2:p.Pro209GlnfsTer5 | |
| ENST00000696558.1:c.695del | ENSP00000512716.1:n.695del | |
| ENST00000696559.1:c.626del | ENSP00000512717.1:p.Pro209GlnfsTer5 | |
| ENST00000696560.1:c.626del | ENSP00000512718.1:p.Pro209GlnfsTer5 | |
| ENST00000696561.1:c.626del | ENSP00000512719.1:p.Pro209GlnfsTer5 | |
| ENST00000696562.1:c.626del | ENSP00000512720.1:p.Pro209GlnfsTer5 | |
| ENST00000412585.7:c.626del MANE Select | ENSP00000399168.2:p.Pro209GlnfsTer5 | |
| ENST00000412585.6:c.626del | ENSP00000399168.2:p.Pro209GlnfsTer5 | |
| ENST00000434333.1:c.659del | ENSP00000405931.1:p.Pro220GlnfsTer5 | |
| ENST00000463574.1:n.217del | ||
| ENST00000474381.1:n.1075del | ||
| ENST00000498007.1:n.892del | ||
| NM_005514.6:c.626del | NP_005505.2:p.Pro209GlnfsTer5 | |
| XM_011514556.1:c.659del | XP_011512858.1:p.Pro220GlnfsTer5 | |
| XM_011514557.1:c.626del | XP_011512859.1:p.Pro209GlnfsTer5 | |
| XR_926175.1:n.1065del | ||
| NM_005514.7:c.626del | NP_005505.2:p.Pro209GlnfsTer5 | |
| NM_005514.8:c.626del MANE Select | NP_005505.2:p.Pro209GlnfsTer5 |