Canonical Allele Identifier: CA2578938317

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519088dup , CM000669.2:g.92519088dup	GRCh38
NC_000007.13:g.92148402dup , CM000669.1:g.92148402dup	GRCh37
NC_000007.12:g.91986338dup	NCBI36
NG_008341.1:g.14449dup
NG_008341.2:g.14449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-5dup MANE Select	ENSP00000248633.4:n.274-5dup
ENST00000248633.8:c.274-5dup	ENSP00000248633.4:n.274-5dup
ENST00000428214.5:c.274-5dup	ENSP00000394413.1:n.274-5dup
ENST00000438045.5:c.273+3019dup	ENSP00000410438.1:n.273+3019dup
ENST00000484913.5:n.278-5dup
NM_000466.2:c.274-5dup	NP_000457.1:n.274-5dup
NM_001282677.1:c.274-5dup	NP_001269606.1:n.274-5dup
NM_001282678.1:c.-386-5dup	NP_001269607.1:n.-386-5dup
XR_242246.3:n.370-5dup
XR_242246.5:n.321-5dup
NM_000466.3:c.274-5dup MANE Select	NP_000457.1:n.274-5dup
NM_001282677.2:c.274-5dup	NP_001269606.1:n.274-5dup
NM_001282678.2:c.-386-5dup	NP_001269607.1:n.-386-5dup