Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310879_152310880del , CM000663.2:g.152310879_152310880del | GRCh38 |
| NC_000001.10:g.152283355_152283356del , CM000663.1:g.152283355_152283356del | GRCh37 |
| NC_000001.9:g.150549979_150549980del | NCBI36 |
| NG_016190.1:g.19325_19326del , LRG_1028:g.19325_19326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4007_4008del MANE Select | ENSP00000357789.1:p.Ser1336PhefsTer11 | |
| ENST00000368799.1:c.4007_4008del | ENSP00000357789.1:p.Ser1336PhefsTer11 | |
| NM_002016.1:c.4007_4008del , LRG_1028t1:c.4007_4008del | NP_002007.1:p.Ser1336PhefsTer11 | |
| XM_011509329.1:c.4007_4008del | XP_011507631.1:p.Ser1336PhefsTer11 | |
| NM_002016.2:c.4007_4008del MANE Select | NP_002007.1:p.Ser1336PhefsTer11 |