Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644314_10644315dup , CM000682.2:g.10644314_10644315dup | GRCh38 |
| NC_000020.10:g.10624962_10624963dup , CM000682.1:g.10624962_10624963dup | GRCh37 |
| NC_000020.9:g.10572962_10572963dup | NCBI36 |
| NG_007496.1:g.34769_34770dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2372+79_2372+80dup MANE Select | NP_000205.1:n.2372+79_2372+80dup |
| ENST00000254958.10:c.2372+79_2372+80dup MANE Select | ENSP00000254958.4:n.2372+79_2372+80dup |
| NM_000214.2:c.2372+79_2372+80dup | NP_000205.1:n.2372+79_2372+80dup |
| ENST00000254958.9:c.2372+79_2372+80dup | ENSP00000254958.4:n.2372+79_2372+80dup |
| ENST00000423891.6:n.2238+79_2238+80dup | |
| ENST00000617965.2:n.2961+79_2961+80dup |