Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994768_178994769insACA , CM000667.2:g.178994768_178994769insACA | GRCh38 |
| NC_000005.9:g.178421769_178421770insACA , CM000667.1:g.178421769_178421770insACA | GRCh37 |
| NC_000005.8:g.178354375_178354376insACA | NCBI36 |
| NG_008105.1:g.5355_5356insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.176_177insTGT MANE Select | ENSP00000430767.1:p.Gln59delinsHisVal | |
| ENST00000650031.1:c.176_177insTGT | ENSP00000497110.1:p.Gln59delinsHisVal | |
| ENST00000231188.9:c.176_177insTGT | ENSP00000231188.5:p.Gln59delinsHisVal | |
| ENST00000517717.1:c.176_177insTGT | ENSP00000430767.1:p.Gln59delinsHisVal | |
| NM_000843.3:c.176_177insTGT | NP_000834.2:p.Gln59delinsHisVal | |
| NM_000843.4:c.176_177insTGT MANE Select | NP_000834.2:p.Gln59delinsHisVal |