This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier:
CA2436347554
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71107215T= , CM000685.2:g.71107215T= | GRCh38 |
| NC_000023.10:g.70327065T= , CM000685.1:g.70327065T= | GRCh37 |
| NC_000023.9:g.70243790T= | NCBI36 |
| NG_009088.1:g.9339A= , LRG_150:g.9339A= | |
| NG_021141.1:g.4574A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642473.1:n.1289-553A= | ||
| ENST00000644022.1:n.1191-512A= | ||
| ENST00000644708.1:n.1303-625A= | ||
| ENST00000644911.1:n.1400-625A= | ||
| ENST00000645266.1:c.925-625A= | ENSP00000493734.1:n.925-625A= | |
| ENST00000645518.1:c.925-553A= | ENSP00000493986.1:n.925-553A= | |
| ENST00000646106.1:c.994-625A= | ENSP00000496437.1:n.994-625A= | |
| ENST00000646505.1:c.925-445A= | ENSP00000496673.1:n.925-445A= | |
| ENST00000647492.1:c.925-445A= | ENSP00000495340.1:n.925-445A= |