Canonical Allele Identifier:
CA1138937746
Gene:
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000024.9:g.8575984_8575985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.8575984_8575985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000024.8:g.8635984_8635985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000485446.1:n.139+8911_139+8912insT... | |
| ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000485106.1:n.-57+40800_-57+40801in... |