Canonical Allele Identifier: CA2776946671

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506366_92506367insAGA , CM000669.2:g.92506366_92506367insAGA	GRCh38
NC_000007.13:g.92135680_92135681insAGA , CM000669.1:g.92135680_92135681insAGA	GRCh37
NC_000007.12:g.91973616_91973617insAGA	NCBI36
NG_008341.1:g.27165_27166insTCT
NG_008341.2:g.27165_27166insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-23_1804-22insTCT MANE Select	ENSP00000248633.4:n.1804-23_1804-22insTCT
ENST00000248633.8:c.1804-23_1804-22insTCT	ENSP00000248633.4:n.1804-23_1804-22insTCT
ENST00000422866.1:c.622-23_622-22insTCT
ENST00000428214.5:c.1804-23_1804-22insTCT	ENSP00000394413.1:n.1804-23_1804-22insTCT
ENST00000438045.5:c.838-23_838-22insTCT	ENSP00000410438.1:n.838-23_838-22insTCT
ENST00000484913.5:n.1843-23_1843-22insTCT
ENST00000496420.5:n.1457_1458insTCT
NM_000466.2:c.1804-23_1804-22insTCT	NP_000457.1:n.1804-23_1804-22insTCT
NM_001282677.1:c.1804-23_1804-22insTCT	NP_001269606.1:n.1804-23_1804-22insTCT
NM_001282678.1:c.1180-23_1180-22insTCT	NP_001269607.1:n.1180-23_1180-22insTCT
XM_005250433.3:c.55-23_55-22insTCT	XP_005250490.1:n.55-23_55-22insTCT
XR_242246.3:n.1900-23_1900-22insTCT
XM_017012319.2:c.55-23_55-22insTCT	XP_016867808.1:n.55-23_55-22insTCT
XR_001744808.2:n.831-23_831-22insTCT
XR_242246.5:n.1851-23_1851-22insTCT
NM_000466.3:c.1804-23_1804-22insTCT MANE Select	NP_000457.1:n.1804-23_1804-22insTCT
NM_001282677.2:c.1804-23_1804-22insTCT	NP_001269606.1:n.1804-23_1804-22insTCT
NM_001282678.2:c.1180-23_1180-22insTCT	NP_001269607.1:n.1180-23_1180-22insTCT