Canonical Allele Identifier: CA2776946750

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506410_92506411insACA , CM000669.2:g.92506410_92506411insACA	GRCh38
NC_000007.13:g.92135724_92135725insACA , CM000669.1:g.92135724_92135725insACA	GRCh37
NC_000007.12:g.91973660_91973661insACA	NCBI36
NG_008341.1:g.27121_27122insTGT
NG_008341.2:g.27121_27122insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-67_1804-66insTGT MANE Select	ENSP00000248633.4:n.1804-67_1804-66insTGT
ENST00000248633.8:c.1804-67_1804-66insTGT	ENSP00000248633.4:n.1804-67_1804-66insTGT
ENST00000422866.1:c.622-67_622-66insTGT
ENST00000428214.5:c.1804-67_1804-66insTGT	ENSP00000394413.1:n.1804-67_1804-66insTGT
ENST00000438045.5:c.838-67_838-66insTGT	ENSP00000410438.1:n.838-67_838-66insTGT
ENST00000484913.5:n.1843-67_1843-66insTGT
ENST00000496420.5:n.1413_1414insTGT
NM_000466.2:c.1804-67_1804-66insTGT	NP_000457.1:n.1804-67_1804-66insTGT
NM_001282677.1:c.1804-67_1804-66insTGT	NP_001269606.1:n.1804-67_1804-66insTGT
NM_001282678.1:c.1180-67_1180-66insTGT	NP_001269607.1:n.1180-67_1180-66insTGT
XM_005250433.3:c.55-67_55-66insTGT	XP_005250490.1:n.55-67_55-66insTGT
XR_242246.3:n.1900-67_1900-66insTGT
XM_017012319.2:c.55-67_55-66insTGT	XP_016867808.1:n.55-67_55-66insTGT
XR_001744808.2:n.831-67_831-66insTGT
XR_242246.5:n.1851-67_1851-66insTGT
NM_000466.3:c.1804-67_1804-66insTGT MANE Select	NP_000457.1:n.1804-67_1804-66insTGT
NM_001282677.2:c.1804-67_1804-66insTGT	NP_001269606.1:n.1804-67_1804-66insTGT
NM_001282678.2:c.1180-67_1180-66insTGT	NP_001269607.1:n.1180-67_1180-66insTGT