Linked Data
dbSNP Id:
rs761596463
ExAC:
6:31323957 CTT / C
gnomAD v2:
6-31323957-CTT-C
gnomAD v3:
6-31356180-CTT-C
gnomAD v4:
6-31356180-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356181_31356182del , CM000668.2:g.31356181_31356182del | GRCh38 |
| NC_000006.11:g.31323958_31323959del , CM000668.1:g.31323958_31323959del | GRCh37 |
| NC_000006.10:g.31431937_31431938del | NCBI36 |
| NG_023187.1:g.6031_6032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2077_2078del | ||
| ENST00000481849.6:n.2077_2078del | ||
| ENST00000497377.6:n.2077_2078del | ||
| ENST00000640094.2:c.604_605del | ENSP00000491275.2:p.Lys202AlafsTer5 | |
| ENST00000696558.1:c.604_605del | ENSP00000512716.1:p.Lys202AlafsTer5 | |
| ENST00000696559.1:c.604_605del | ENSP00000512717.1:p.Lys202AlafsTer5 | |
| ENST00000696560.1:c.604_605del | ENSP00000512718.1:p.Lys202AlafsTer5 | |
| ENST00000696561.1:c.604_605del | ENSP00000512719.1:p.Lys202AlafsTer5 | |
| ENST00000696562.1:c.604_605del | ENSP00000512720.1:p.Lys202AlafsTer5 | |
| ENST00000412585.7:c.604_605del MANE Select | ENSP00000399168.2:p.Lys202AlafsTer5 | |
| ENST00000412585.6:c.604_605del | ENSP00000399168.2:p.Lys202AlafsTer5 | |
| ENST00000434333.1:c.637_638del | ENSP00000405931.1:p.Lys213AlafsTer5 | |
| ENST00000474381.1:n.479_480del | ||
| ENST00000498007.1:n.870_871del | ||
| NM_005514.6:c.604_605del | NP_005505.2:p.Lys202AlafsTer5 | |
| XM_011514556.1:c.637_638del | XP_011512858.1:p.Lys213AlafsTer5 | |
| XM_011514557.1:c.604_605del | XP_011512859.1:p.Lys202AlafsTer5 | |
| XR_926175.1:n.614_615del | ||
| NM_005514.7:c.604_605del | NP_005505.2:p.Lys202AlafsTer5 | |
| NM_005514.8:c.604_605del MANE Select | NP_005505.2:p.Lys202AlafsTer5 |