Canonical Allele Identifier:
CA1138937750
Gene:
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000024.9:g.8575984_8575985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.8575984_8575985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000024.8:g.8635984_8635985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000485446.1:n.139+8911_139+8912insT... | |
| ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000485106.1:n.-57+40800_-57+40801in... |