Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37562525_37562526delinsTC , CM000665.2:g.37562525_37562526delinsTC | GRCh38 |
| NC_000003.11:g.37604016_37604017delinsTC , CM000665.1:g.37604016_37604017delinsTC | GRCh37 |
| NC_000003.10:g.37579020_37579021delinsTC | NCBI36 |
| NG_016166.1:g.115204_115205delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.1689+19940_1689+19941delinsTC MANE Select | ENSP00000264741.5:n.1689+19940_1689+19941delinsTC | |
| ENST00000264741.9:c.1689+19940_1689+19941delinsTC | ENSP00000264741.5:n.1689+19940_1689+19941delinsTC | |
| ENST00000422441.5:c.1689+19940_1689+19941delinsTC | ENSP00000397258.1:n.1689+19940_1689+19941delinsTC | |
| NM_002207.2:c.1689+19940_1689+19941delinsTC | NP_002198.2:n.1689+19940_1689+19941delinsTC | |
| NM_002207.3:c.1689+19940_1689+19941delinsTC MANE Select | NP_002198.2:n.1689+19940_1689+19941delinsTC |