Canonical Allele Identifier: CA2776946475

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504962_92504963insAG , CM000669.2:g.92504962_92504963insAG	GRCh38
NC_000007.13:g.92134276_92134277insAG , CM000669.1:g.92134276_92134277insAG	GRCh37
NC_000007.12:g.91972212_91972213insAG	NCBI36
NG_008341.1:g.28569_28570insCT
NG_008341.2:g.28569_28570insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-61_1901-60insCT MANE Select	ENSP00000248633.4:n.1901-61_1901-60insCT
ENST00000248633.8:c.1901-61_1901-60insCT	ENSP00000248633.4:n.1901-61_1901-60insCT
ENST00000422866.1:c.719-61_719-60insCT
ENST00000428214.5:c.1900+1285_1900+1286insCT	ENSP00000394413.1:n.1900+1285_1900+1286insCT
ENST00000438045.5:c.935-61_935-60insCT	ENSP00000410438.1:n.935-61_935-60insCT
ENST00000484913.5:n.1940-61_1940-60insCT
ENST00000496420.5:n.1577-61_1577-60insCT
NM_000466.2:c.1901-61_1901-60insCT	NP_000457.1:n.1901-61_1901-60insCT
NM_001282677.1:c.1900+1285_1900+1286insCT	NP_001269606.1:n.1900+1285_1900+1286insCT
NM_001282678.1:c.1277-61_1277-60insCT	NP_001269607.1:n.1277-61_1277-60insCT
XM_005250433.3:c.152-61_152-60insCT	XP_005250490.1:n.152-61_152-60insCT
XR_242246.3:n.1997-61_1997-60insCT
XM_017012319.2:c.152-61_152-60insCT	XP_016867808.1:n.152-61_152-60insCT
XR_001744808.2:n.928-61_928-60insCT
XR_242246.5:n.1948-61_1948-60insCT
NM_000466.3:c.1901-61_1901-60insCT MANE Select	NP_000457.1:n.1901-61_1901-60insCT
NM_001282677.2:c.1900+1285_1900+1286insCT	NP_001269606.1:n.1900+1285_1900+1286insCT
NM_001282678.2:c.1277-61_1277-60insCT	NP_001269607.1:n.1277-61_1277-60insCT