Canonical Allele Identifier: CA2776947487

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518338_92518339insAGA , CM000669.2:g.92518338_92518339insAGA	GRCh38
NC_000007.13:g.92147652_92147653insAGA , CM000669.1:g.92147652_92147653insAGA	GRCh37
NC_000007.12:g.91985588_91985589insAGA	NCBI36
NG_008341.1:g.15193_15194insTCT
NG_008341.2:g.15193_15194insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-84_358-83insTCT MANE Select	ENSP00000248633.4:n.358-84_358-83insTCT
ENST00000248633.8:c.358-84_358-83insTCT	ENSP00000248633.4:n.358-84_358-83insTCT
ENST00000428214.5:c.358-84_358-83insTCT	ENSP00000394413.1:n.358-84_358-83insTCT
ENST00000438045.5:c.273+3763_273+3764insTCT	ENSP00000410438.1:n.273+3763_273+3764insTCT
ENST00000484913.5:n.397-84_397-83insTCT
NM_000466.2:c.358-84_358-83insTCT	NP_000457.1:n.358-84_358-83insTCT
NM_001282677.1:c.358-84_358-83insTCT	NP_001269606.1:n.358-84_358-83insTCT
NM_001282678.1:c.-267-84_-267-83insTCT	NP_001269607.1:n.-267-84_-267-83insTCT
XR_242246.3:n.454-84_454-83insTCT
XR_242246.5:n.405-84_405-83insTCT
NM_000466.3:c.358-84_358-83insTCT MANE Select	NP_000457.1:n.358-84_358-83insTCT
NM_001282677.2:c.358-84_358-83insTCT	NP_001269606.1:n.358-84_358-83insTCT
NM_001282678.2:c.-267-84_-267-83insTCT	NP_001269607.1:n.-267-84_-267-83insTCT