Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945350_63945351dup , CM000679.2:g.63945350_63945351dup | GRCh38 |
| NC_000017.10:g.62022710_62022711dup , CM000679.1:g.62022710_62022711dup | GRCh37 |
| NC_000017.9:g.59376442_59376443dup | NCBI36 |
| NG_011699.1:g.32568_32569dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3720+9_3720+10dup MANE Select | ENSP00000396320.1:n.3720+9_3720+10dup | |
| ENST00000578147.5:c.3720+9_3720+10dup | ENSP00000463963.1:n.3720+9_3720+10dup | |
| NM_000334.4:c.3720+9_3720+10dup MANE Select | NP_000325.4:n.3720+9_3720+10dup | |
| XM_005257566.3:c.3720+9_3720+10dup | XP_005257623.1:n.3720+9_3720+10dup |