Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160038_44160058dup , CM000682.2:g.44160038_44160058dup | GRCh38 |
| NC_000020.10:g.42788678_42788698dup , CM000682.1:g.42788678_42788698dup | GRCh37 |
| NC_000020.9:g.42222092_42222112dup | NCBI36 |
| NG_031867.1:g.32521_32541dup , LRG_394:g.32521_32541dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.729_749dup MANE Select | ENSP00000362071.3:p.Leu249_Lys250insAsnSerArgValSerPheLeu | |
| ENST00000372980.3:c.729_749dup | ENSP00000362071.3:p.Leu249_Lys250insAsnSerArgValSerPheLeu | |
| NM_020433.4:c.729_749dup , LRG_394t1:c.729_749dup | NP_065166.2:p.Leu249_Lys250insAsnSerArgValSerPheLeu | |
| XM_006723832.2:c.729_749dup | XP_006723895.1:p.Leu249_Lys250insAsnSerArgValSerPheLeu | |
| NM_020433.5:c.729_749dup MANE Select | NP_065166.2:p.Leu249_Lys250insAsnSerArgValSerPheLeu |