Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705697_81705706dup , CM000665.2:g.81705697_81705706dup | GRCh38 |
| NC_000003.11:g.81754848_81754857dup , CM000665.1:g.81754848_81754857dup | GRCh37 |
| NC_000003.10:g.81837538_81837547dup | NCBI36 |
| NG_011810.1:g.61095_61104dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.144-93_144-84dup MANE Select | ENSP00000410833.2:n.144-93_144-84dup | |
| ENST00000429644.6:c.144-93_144-84dup | ENSP00000410833.2:n.144-93_144-84dup | |
| ENST00000489715.1:c.21-93_21-84dup | ENSP00000419638.1:n.21-93_21-84dup | |
| NM_000158.3:c.144-93_144-84dup | NP_000149.3:n.144-93_144-84dup | |
| NM_000158.4:c.144-93_144-84dup MANE Select | NP_000149.4:n.144-93_144-84dup |