Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025433_66025437dup , CM000673.2:g.66025433_66025437dup | GRCh38 |
| NC_000011.9:g.65792904_65792908dup , CM000673.1:g.65792904_65792908dup | GRCh37 |
| NC_000011.8:g.65549480_65549484dup | NCBI36 |
| NG_016285.1:g.6082_6086dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.944_948dup MANE Select | NP_444282.3:p.Asp317MetfsTer20 |
| ENST00000312106.6:c.944_948dup MANE Select | ENSP00000309052.5:p.Asp317MetfsTer20 |
| NM_053054.3:c.944_948dup | NP_444282.3:p.Asp317MetfsTer20 |
| ENST00000312106.5:c.944_948dup | ENSP00000309052.5:p.Asp317MetfsTer20 |
| XR_002957121.1:n.1082_1086dup | |
| XR_002957122.1:n.1083_1087dup | |
| XR_949785.1:n.1084_1088dup | |
| XR_949785.2:n.1082_1086dup | |
| XR_949786.1:n.1084_1088dup | |
| XR_949787.1:n.1084_1088dup | |
| XR_949787.2:n.1083_1087dup |