Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674867dup , CM000671.2:g.136674867dup | GRCh38 |
| NC_000009.11:g.139569319dup , CM000671.1:g.139569319dup | GRCh37 |
| NC_000009.10:g.138689140dup | NCBI36 |
| NG_008090.1:g.17594dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.589-59dup MANE Select | ENSP00000360761.2:n.589-59dup | |
| ENST00000371694.7:c.493-59dup | ENSP00000360759.3:n.493-59dup | |
| ENST00000371696.6:c.589-59dup | ENSP00000360761.2:n.589-59dup | |
| ENST00000472820.1:n.517-59dup | ||
| ENST00000538402.1:c.589-59dup | ENSP00000438919.1:n.589-59dup | |
| NM_001012727.1:c.493-59dup | NP_001012745.1:n.493-59dup | |
| NM_006412.3:c.589-59dup | NP_006403.2:n.589-59dup | |
| NM_006412.4:c.589-59dup MANE Select | NP_006403.2:n.589-59dup | |
| NM_001012727.2:c.493-59dup | NP_001012745.1:n.493-59dup |