Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817249_215817250insACA , CM000663.2:g.215817249_215817250insACA | GRCh38 |
| NC_000001.10:g.215990591_215990592insACA , CM000663.1:g.215990591_215990592insACA | GRCh37 |
| NC_000001.9:g.214057214_214057215insACA | NCBI36 |
| NG_009497.1:g.611147_611148insTGT | |
| NG_009497.2:g.611199_611200insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-55_9372-54insTGT MANE Select | ENSP00000305941.3:n.9372-55_9372-54insTGT | |
| ENST00000674083.1:c.9372-55_9372-54insTGT | ENSP00000501296.1:n.9372-55_9372-54insTGT | |
| ENST00000307340.7:c.9372-55_9372-54insTGT | ENSP00000305941.3:n.9372-55_9372-54insTGT | |
| NM_206933.2:c.9372-55_9372-54insTGT | NP_996816.2:n.9372-55_9372-54insTGT | |
| NM_206933.3:c.9372-55_9372-54insTGT | NP_996816.2:n.9372-55_9372-54insTGT | |
| NM_206933.4:c.9372-55_9372-54insTGT MANE Select | NP_996816.3:n.9372-55_9372-54insTGT |