Canonical Allele Identifier: CA2776947548

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519079_92519080del , CM000669.2:g.92519079_92519080del	GRCh38
NC_000007.13:g.92148393_92148394del , CM000669.1:g.92148393_92148394del	GRCh37
NC_000007.12:g.91986329_91986330del	NCBI36
NG_008341.1:g.14452_14453del
NG_008341.2:g.14452_14453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-2_274-1del MANE Select	ENSP00000248633.4:n.274-2_274-1del
ENST00000248633.8:c.274-2_274-1del	ENSP00000248633.4:n.274-2_274-1del
ENST00000428214.5:c.274-2_274-1del	ENSP00000394413.1:n.274-2_274-1del
ENST00000438045.5:c.273+3022_273+3023del	ENSP00000410438.1:n.273+3022_273+3023del
ENST00000484913.5:n.278-2_278-1del
NM_000466.2:c.274-2_274-1del	NP_000457.1:n.274-2_274-1del
NM_001282677.1:c.274-2_274-1del	NP_001269606.1:n.274-2_274-1del
NM_001282678.1:c.-386-2_-386-1del	NP_001269607.1:n.-386-2_-386-1del
XR_242246.3:n.370-2_370-1del
XR_242246.5:n.321-2_321-1del
NM_000466.3:c.274-2_274-1del MANE Select	NP_000457.1:n.274-2_274-1del
NM_001282677.2:c.274-2_274-1del	NP_001269606.1:n.274-2_274-1del
NM_001282678.2:c.-386-2_-386-1del	NP_001269607.1:n.-386-2_-386-1del