Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125455dup , CM000666.2:g.55125455dup | GRCh38 |
| NC_000004.11:g.55991622dup , CM000666.1:g.55991622dup | GRCh37 |
| NC_000004.10:g.55686379dup | NCBI36 |
| NG_012004.1:g.5141dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-162dup MANE Select | ENSP00000263923.4:n.-162dup | |
| ENST00000263923.4:c.-162dup | ENSP00000263923.4:n.-162dup | |
| NM_002253.2:c.-162dup | NP_002244.1:n.-162dup | |
| NM_002253.3:c.-162dup | NP_002244.1:n.-162dup | |
| NM_002253.4:c.-162dup MANE Select | NP_002244.1:n.-162dup |