Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429473dup , CM000676.2:g.23429473dup | GRCh38 |
| NC_000014.8:g.23898682dup , CM000676.1:g.23898682dup | GRCh37 |
| NC_000014.7:g.22968522dup | NCBI36 |
| NG_007884.1:g.11191dup , LRG_384:g.11191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1139-124dup MANE Select | ENSP00000347507.3:n.1139-124dup | |
| ENST00000355349.3:c.1139-124dup | ENSP00000347507.3:n.1139-124dup | |
| NM_000257.3:c.1139-124dup | NP_000248.2:n.1139-124dup | |
| XR_245686.3:n.1245-124dup | ||
| XM_017021340.1:c.1139-124dup | XP_016876829.1:n.1139-124dup | |
| NM_000257.4:c.1139-124dup MANE Select | NP_000248.2:n.1139-124dup |