Canonical Allele Identifier: CA2776946483

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504965_92504966insACA , CM000669.2:g.92504965_92504966insACA	GRCh38
NC_000007.13:g.92134279_92134280insACA , CM000669.1:g.92134279_92134280insACA	GRCh37
NC_000007.12:g.91972215_91972216insACA	NCBI36
NG_008341.1:g.28566_28567insTGT
NG_008341.2:g.28566_28567insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-64_1901-63insTGT MANE Select	ENSP00000248633.4:n.1901-64_1901-63insTGT
ENST00000248633.8:c.1901-64_1901-63insTGT	ENSP00000248633.4:n.1901-64_1901-63insTGT
ENST00000422866.1:c.719-64_719-63insTGT
ENST00000428214.5:c.1900+1282_1900+1283insTGT	ENSP00000394413.1:n.1900+1282_1900+1283insTGT
ENST00000438045.5:c.935-64_935-63insTGT	ENSP00000410438.1:n.935-64_935-63insTGT
ENST00000484913.5:n.1940-64_1940-63insTGT
ENST00000496420.5:n.1577-64_1577-63insTGT
NM_000466.2:c.1901-64_1901-63insTGT	NP_000457.1:n.1901-64_1901-63insTGT
NM_001282677.1:c.1900+1282_1900+1283insTGT	NP_001269606.1:n.1900+1282_1900+1283insTGT
NM_001282678.1:c.1277-64_1277-63insTGT	NP_001269607.1:n.1277-64_1277-63insTGT
XM_005250433.3:c.152-64_152-63insTGT	XP_005250490.1:n.152-64_152-63insTGT
XR_242246.3:n.1997-64_1997-63insTGT
XM_017012319.2:c.152-64_152-63insTGT	XP_016867808.1:n.152-64_152-63insTGT
XR_001744808.2:n.928-64_928-63insTGT
XR_242246.5:n.1948-64_1948-63insTGT
NM_000466.3:c.1901-64_1901-63insTGT MANE Select	NP_000457.1:n.1901-64_1901-63insTGT
NM_001282677.2:c.1900+1282_1900+1283insTGT	NP_001269606.1:n.1900+1282_1900+1283insTGT
NM_001282678.2:c.1277-64_1277-63insTGT	NP_001269607.1:n.1277-64_1277-63insTGT