Linked Data
gnomAD v4:
6-31357563-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357564_31357565del , CM000668.2:g.31357564_31357565del | GRCh38 |
| NC_000006.11:g.31325341_31325342del , CM000668.1:g.31325341_31325342del | GRCh37 |
| NC_000006.10:g.31433320_31433321del | NCBI36 |
| NG_023187.1:g.4648_4649del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1338+49_1338+50del | ||
| ENST00000481849.6:n.1338+49_1338+50del | ||
| ENST00000497377.6:n.1338+49_1338+50del | ||
| ENST00000696559.1:c.-136+49_-136+50del | ENSP00000512717.1:n.-136+49_-136+50del | |
| ENST00000696560.1:c.-136+49_-136+50del | ENSP00000512718.1:n.-136+49_-136+50del | |
| ENST00000696561.1:c.-136+49_-136+50del | ENSP00000512719.1:n.-136+49_-136+50del | |
| ENST00000696562.1:c.-135-272_-135-271del | ENSP00000512720.1:n.-135-272_-135-271del | |
| ENST00000603274.1:n.918_919del | ||
| XR_926692.1:n.164+49_164+50del |