Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451207dup , CM000665.2:g.52451207dup | GRCh38 |
| NC_000003.11:g.52485223dup , CM000665.1:g.52485223dup | GRCh37 |
| NC_000003.10:g.52460263dup | NCBI36 |
| NG_008963.1:g.7839dup , LRG_378:g.7839dup | |
| NG_033112.1:g.700dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*72dup MANE Select | ENSP00000232975.3:n.*72dup | |
| ENST00000232975.7:c.*72dup | ENSP00000232975.3:n.*72dup | |
| NM_003280.2:c.*72dup , LRG_378t1:c.*72dup | NP_003271.1:n.*72dup | |
| NM_003280.3:c.*72dup MANE Select | NP_003271.1:n.*72dup |