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:
CA2694021990
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71107358T>A , CM000685.2:g.71107358T>A | GRCh38 |
| NC_000023.10:g.70327208T>A , CM000685.1:g.70327208T>A | GRCh37 |
| NC_000023.9:g.70243933T>A | NCBI36 |
| NG_009088.1:g.9196A>T , LRG_150:g.9196A>T | |
| NG_021141.1:g.4431A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642473.1:n.1289-696A>T | ||
| ENST00000644022.1:n.1191-655A>T | ||
| ENST00000644708.1:n.1302+495A>T | ||
| ENST00000644911.1:n.1399+495A>T | ||
| ENST00000645266.1:c.925-768A>T | ENSP00000493734.1:n.925-768A>T | |
| ENST00000645518.1:c.925-696A>T | ENSP00000493986.1:n.925-696A>T | |
| ENST00000646106.1:c.993+495A>T | ENSP00000496437.1:n.993+495A>T | |
| ENST00000646505.1:c.925-588A>T | ENSP00000496673.1:n.925-588A>T | |
| ENST00000647492.1:c.925-588A>T | ENSP00000495340.1:n.925-588A>T |