Canonical Allele Identifier: CA913002570
Gene: PEX12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576080_35576081del , CM000679.2:g.35576080_35576081del GRCh38
NC_000017.10:g.33903099_33903100del , CM000679.1:g.33903099_33903100del GRCh37
NC_000017.9:g.30927212_30927213del NCBI36
NG_008447.1:g.7557_7558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.781_782del MANE Select ENSP00000225873.3:p.Leu261Ter
ENST00000586663.2:c.781_782del ENSP00000466894.2:p.Leu261Ter
ENST00000225873.8:c.781_782del ENSP00000225873.3:p.Leu261Ter
ENST00000586663.1:c.781_782del ENSP00000466894.1:p.Leu261Ter
ENST00000613219.4:c.781_782del ENSP00000482609.1:p.Leu261Ter
NM_000286.2:c.781_782del NP_000277.1:p.Leu261Ter
NM_000286.3:c.781_782del MANE Select NP_000277.1:p.Leu261Ter