Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857343dup , CM000674.2:g.121857343dup | GRCh38 |
| NC_000012.11:g.122295249dup , CM000674.1:g.122295249dup | GRCh37 |
| NC_000012.10:g.120779632dup | NCBI36 |
| NG_016461.1:g.36270dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.184dup (HPD) MANE Select | ENSP00000289004.4:p.Ile62AsnfsTer30 | |
| ENST00000535114.1:n.540dup (HPD) | ||
| ENST00000542159.2:n.242dup (HPD) | ||
| ENST00000543163.5:c.67dup (HPD) | ENSP00000441677.1:p.Ile23AsnfsTer30 | |
| NM_001171993.1:c.67dup (HPD) | NP_001165464.1:p.Ile23AsnfsTer30 | |
| NM_002150.2:c.184dup (HPD) | NP_002141.1:p.Ile62AsnfsTer30 | |
| XR_002957437.1:n.324-276dup (TIALD) | ||
| NM_002150.3:c.184dup (HPD) MANE Select | NP_002141.2:p.Ile62AsnfsTer30 | |
| NM_001171993.2:c.67dup (HPD) | NP_001165464.1:p.Ile23AsnfsTer30 |