Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459723dup , CM000675.2:g.48459723dup | GRCh38 |
| NC_000013.10:g.49033859dup , CM000675.1:g.49033859dup | GRCh37 |
| NC_000013.9:g.47931860dup | NCBI36 |
| NG_009009.1:g.160977dup , LRG_517:g.160977dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1996dup MANE Select | ENSP00000267163.4:p.Cys666LeufsTer2 | |
| ENST00000643064.1:c.194+78280dup | ||
| ENST00000650461.1:c.1996dup | ENSP00000497193.1:p.Cys666LeufsTer2 | |
| ENST00000267163.4:c.1996dup | ENSP00000267163.4:p.Cys666LeufsTer2 | |
| NM_000321.2:c.1996dup , LRG_517t1:c.1996dup | NP_000312.2:p.Cys666LeufsTer2 | |
| XM_011535171.1:c.1735dup | XP_011533473.1:p.Cys579LeufsTer2 | |
| XM_011535171.2:c.1735dup | XP_011533473.1:p.Cys579LeufsTer2 | |
| NM_000321.3:c.1996dup MANE Select | NP_000312.2:p.Cys666LeufsTer2 |