Canonical Allele Identifier: CA2578938036

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506420_92506423dup , CM000669.2:g.92506420_92506423dup	GRCh38
NC_000007.13:g.92135734_92135737dup , CM000669.1:g.92135734_92135737dup	GRCh37
NC_000007.12:g.91973670_91973673dup	NCBI36
NG_008341.1:g.27109_27112dup
NG_008341.2:g.27109_27112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-79_1804-76dup MANE Select	ENSP00000248633.4:n.1804-79_1804-76dup
ENST00000248633.8:c.1804-79_1804-76dup	ENSP00000248633.4:n.1804-79_1804-76dup
ENST00000422866.1:c.622-79_622-76dup
ENST00000428214.5:c.1804-79_1804-76dup	ENSP00000394413.1:n.1804-79_1804-76dup
ENST00000438045.5:c.838-79_838-76dup	ENSP00000410438.1:n.838-79_838-76dup
ENST00000484913.5:n.1843-79_1843-76dup
ENST00000496420.5:n.1401_1404dup
NM_000466.2:c.1804-79_1804-76dup	NP_000457.1:n.1804-79_1804-76dup
NM_001282677.1:c.1804-79_1804-76dup	NP_001269606.1:n.1804-79_1804-76dup
NM_001282678.1:c.1180-79_1180-76dup	NP_001269607.1:n.1180-79_1180-76dup
XM_005250433.3:c.55-79_55-76dup	XP_005250490.1:n.55-79_55-76dup
XR_242246.3:n.1900-79_1900-76dup
XM_017012319.2:c.55-79_55-76dup	XP_016867808.1:n.55-79_55-76dup
XR_001744808.2:n.831-79_831-76dup
XR_242246.5:n.1851-79_1851-76dup
NM_000466.3:c.1804-79_1804-76dup MANE Select	NP_000457.1:n.1804-79_1804-76dup
NM_001282677.2:c.1804-79_1804-76dup	NP_001269606.1:n.1804-79_1804-76dup
NM_001282678.2:c.1180-79_1180-76dup	NP_001269607.1:n.1180-79_1180-76dup