Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141331140_141331141delinsCT , CM000667.2:g.141331140_141331141delinsCT | GRCh38 |
| NC_000005.9:g.140710707_140710708delinsCT , CM000667.1:g.140710707_140710708delinsCT | GRCh37 |
| NC_000005.8:g.140690891_140690892delinsCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517417.3:c.456_457delinsCT MANE Select | ENSP00000431083.1:p.Val152= | |
| ENST00000378105.4:c.456_457delinsCT | ENSP00000367345.3:p.Val152= | |
| ENST00000517417.2:c.456_457delinsCT | ENSP00000431083.1:p.Val152= | |
| NM_018912.2:c.456_457delinsCT | NP_061735.1:p.Val152= | |
| NM_031993.1:c.456_457delinsCT | NP_114382.1:p.Val152= | |
| NM_018912.3:c.456_457delinsCT MANE Select | NP_061735.1:p.Val152= | |
| NM_031993.2:c.456_457delinsCT | NP_114382.1:p.Val152= |