Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152303035dup , CM000663.2:g.152303035dup | GRCh38 |
| NC_000001.10:g.152275511dup , CM000663.1:g.152275511dup | GRCh37 |
| NC_000001.9:g.150542135dup | NCBI36 |
| NG_016190.1:g.27169dup , LRG_1028:g.27169dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.11851dup MANE Select | ENSP00000357789.1:p.His3951ProfsTer4 | |
| ENST00000368799.1:c.11851dup | ENSP00000357789.1:p.His3951ProfsTer4 | |
| NM_002016.1:c.11851dup , LRG_1028t1:c.11851dup | NP_002007.1:p.His3951ProfsTer4 | |
| XM_011509329.1:c.9907dup | XP_011507631.1:p.His3303ProfsTer4 | |
| NM_002016.2:c.11851dup MANE Select | NP_002007.1:p.His3951ProfsTer4 |