Canonical Allele Identifier: CA2776946472

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504961_92504962insACA , CM000669.2:g.92504961_92504962insACA	GRCh38
NC_000007.13:g.92134275_92134276insACA , CM000669.1:g.92134275_92134276insACA	GRCh37
NC_000007.12:g.91972211_91972212insACA	NCBI36
NG_008341.1:g.28570_28571insTGT
NG_008341.2:g.28570_28571insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-60_1901-59insTGT MANE Select	ENSP00000248633.4:n.1901-60_1901-59insTGT
ENST00000248633.8:c.1901-60_1901-59insTGT	ENSP00000248633.4:n.1901-60_1901-59insTGT
ENST00000422866.1:c.719-60_719-59insTGT
ENST00000428214.5:c.1900+1286_1900+1287insTGT	ENSP00000394413.1:n.1900+1286_1900+1287insTGT
ENST00000438045.5:c.935-60_935-59insTGT	ENSP00000410438.1:n.935-60_935-59insTGT
ENST00000484913.5:n.1940-60_1940-59insTGT
ENST00000496420.5:n.1577-60_1577-59insTGT
NM_000466.2:c.1901-60_1901-59insTGT	NP_000457.1:n.1901-60_1901-59insTGT
NM_001282677.1:c.1900+1286_1900+1287insTGT	NP_001269606.1:n.1900+1286_1900+1287insTGT
NM_001282678.1:c.1277-60_1277-59insTGT	NP_001269607.1:n.1277-60_1277-59insTGT
XM_005250433.3:c.152-60_152-59insTGT	XP_005250490.1:n.152-60_152-59insTGT
XR_242246.3:n.1997-60_1997-59insTGT
XM_017012319.2:c.152-60_152-59insTGT	XP_016867808.1:n.152-60_152-59insTGT
XR_001744808.2:n.928-60_928-59insTGT
XR_242246.5:n.1948-60_1948-59insTGT
NM_000466.3:c.1901-60_1901-59insTGT MANE Select	NP_000457.1:n.1901-60_1901-59insTGT
NM_001282677.2:c.1900+1286_1900+1287insTGT	NP_001269606.1:n.1900+1286_1900+1287insTGT
NM_001282678.2:c.1277-60_1277-59insTGT	NP_001269607.1:n.1277-60_1277-59insTGT