Canonical Allele Identifier: CA2776946491

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504968_92504969insAC , CM000669.2:g.92504968_92504969insAC	GRCh38
NC_000007.13:g.92134282_92134283insAC , CM000669.1:g.92134282_92134283insAC	GRCh37
NC_000007.12:g.91972218_91972219insAC	NCBI36
NG_008341.1:g.28563_28564insGT
NG_008341.2:g.28563_28564insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-67_1901-66insGT MANE Select	ENSP00000248633.4:n.1901-67_1901-66insGT
ENST00000248633.8:c.1901-67_1901-66insGT	ENSP00000248633.4:n.1901-67_1901-66insGT
ENST00000422866.1:c.719-67_719-66insGT
ENST00000428214.5:c.1900+1279_1900+1280insGT	ENSP00000394413.1:n.1900+1279_1900+1280insGT
ENST00000438045.5:c.935-67_935-66insGT	ENSP00000410438.1:n.935-67_935-66insGT
ENST00000484913.5:n.1940-67_1940-66insGT
ENST00000496420.5:n.1577-67_1577-66insGT
NM_000466.2:c.1901-67_1901-66insGT	NP_000457.1:n.1901-67_1901-66insGT
NM_001282677.1:c.1900+1279_1900+1280insGT	NP_001269606.1:n.1900+1279_1900+1280insGT
NM_001282678.1:c.1277-67_1277-66insGT	NP_001269607.1:n.1277-67_1277-66insGT
XM_005250433.3:c.152-67_152-66insGT	XP_005250490.1:n.152-67_152-66insGT
XR_242246.3:n.1997-67_1997-66insGT
XM_017012319.2:c.152-67_152-66insGT	XP_016867808.1:n.152-67_152-66insGT
XR_001744808.2:n.928-67_928-66insGT
XR_242246.5:n.1948-67_1948-66insGT
NM_000466.3:c.1901-67_1901-66insGT MANE Select	NP_000457.1:n.1901-67_1901-66insGT
NM_001282677.2:c.1900+1279_1900+1280insGT	NP_001269606.1:n.1900+1279_1900+1280insGT
NM_001282678.2:c.1277-67_1277-66insGT	NP_001269607.1:n.1277-67_1277-66insGT