Canonical Allele Identifier: CA2776946876

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507013dup , CM000669.2:g.92507013dup	GRCh38
NC_000007.13:g.92136327dup , CM000669.1:g.92136327dup	GRCh37
NC_000007.12:g.91974263dup	NCBI36
NG_008341.1:g.26522dup
NG_008341.2:g.26522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1787dup MANE Select	ENSP00000248633.4:p.Leu596PhefsTer19
ENST00000248633.8:c.1787dup	ENSP00000248633.4:p.Leu596PhefsTer19
ENST00000422866.1:c.605dup
ENST00000428214.5:c.1787dup	ENSP00000394413.1:p.Leu596PhefsTer19
ENST00000438045.5:c.821dup	ENSP00000410438.1:p.Leu274PhefsTer19
ENST00000484913.5:n.1826dup
ENST00000496420.5:n.814dup
NM_000466.2:c.1787dup	NP_000457.1:p.Leu596PhefsTer19
NM_001282677.1:c.1787dup	NP_001269606.1:p.Leu596PhefsTer19
NM_001282678.1:c.1163dup	NP_001269607.1:p.Leu388PhefsTer19
XM_005250433.3:c.38dup	XP_005250490.1:p.Leu13PhefsTer19
XR_242246.3:n.1883dup
XM_017012319.2:c.38dup	XP_016867808.1:p.Leu13PhefsTer19
XR_001744808.2:n.814dup
XR_242246.5:n.1834dup
NM_000466.3:c.1787dup MANE Select	NP_000457.1:p.Leu596PhefsTer19
NM_001282677.2:c.1787dup	NP_001269606.1:p.Leu596PhefsTer19
NM_001282678.2:c.1163dup	NP_001269607.1:p.Leu388PhefsTer19