Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55124904_55124920dup , CM000666.2:g.55124904_55124920dup | GRCh38 |
| NC_000004.11:g.55991071_55991087dup , CM000666.1:g.55991071_55991087dup | GRCh37 |
| NC_000004.10:g.55685828_55685844dup | NCBI36 |
| NG_012004.1:g.5680_5696dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.67+311_67+327dup MANE Select | ENSP00000263923.4:n.67+311_67+327dup | |
| ENST00000263923.4:c.67+311_67+327dup | ENSP00000263923.4:n.67+311_67+327dup | |
| ENST00000512566.1:n.67+311_67+327dup | ||
| NM_002253.2:c.67+311_67+327dup | NP_002244.1:n.67+311_67+327dup | |
| NM_002253.3:c.67+311_67+327dup | NP_002244.1:n.67+311_67+327dup | |
| NM_002253.4:c.67+311_67+327dup MANE Select | NP_002244.1:n.67+311_67+327dup |