Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152309095_152309096del , CM000663.2:g.152309095_152309096del | GRCh38 |
| NC_000001.10:g.152281571_152281572del , CM000663.1:g.152281571_152281572del | GRCh37 |
| NC_000001.9:g.150548195_150548196del | NCBI36 |
| NG_016190.1:g.21110_21111del , LRG_1028:g.21110_21111del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.5792_5793del MANE Select | ENSP00000357789.1:p.Ser1931Ter | |
| ENST00000368799.1:c.5792_5793del | ENSP00000357789.1:p.Ser1931Ter | |
| NM_002016.1:c.5792_5793del , LRG_1028t1:c.5792_5793del | NP_002007.1:p.Ser1931Ter | |
| XM_011509329.1:c.5792_5793del | XP_011507631.1:p.Ser1931Ter | |
| NM_002016.2:c.5792_5793del MANE Select | NP_002007.1:p.Ser1931Ter |