Canonical Allele Identifier: CA2776946493

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504968_92504969insAGTA , CM000669.2:g.92504968_92504969insAGTA	GRCh38
NC_000007.13:g.92134282_92134283insAGTA , CM000669.1:g.92134282_92134283insAGTA	GRCh37
NC_000007.12:g.91972218_91972219insAGTA	NCBI36
NG_008341.1:g.28563_28564insTACT
NG_008341.2:g.28563_28564insTACT

Transcript Alleles

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