Linked Data
dbSNP Id:
rs1863143795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981822_13981823del , CM000674.2:g.13981822_13981823del | GRCh38 |
| NC_000012.11:g.14134756_14134757del , CM000674.1:g.14134756_14134757del | GRCh37 |
| NC_000012.10:g.14026023_14026024del | NCBI36 |
| NG_031854.1:g.3267_3268del | |
| NG_031854.2:g.5191_5192del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+94_-683+95del | ENSP00000486677.2:n.-683+94_-683+95del | |
| ENST00000627535.2:c.-448+94_-448+95del | ENSP00000486411.1:n.-448+94_-448+95del | |
| ENST00000630791.1:c.-683+94_-683+95del | ENSP00000486677.1:n.-683+94_-683+95del | |
| XM_011520629.1:c.-683+94_-683+95del | XP_011518931.1:n.-683+94_-683+95del | |
| XM_011520628.2:c.-928_-927del | XP_011518930.1:n.-928_-927del | |
| XM_011520629.2:c.-683+94_-683+95del | XP_011518931.1:n.-683+94_-683+95del |