Canonical Allele Identifier: CA2776947491

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518352_92518353insAG , CM000669.2:g.92518352_92518353insAG	GRCh38
NC_000007.13:g.92147666_92147667insAG , CM000669.1:g.92147666_92147667insAG	GRCh37
NC_000007.12:g.91985602_91985603insAG	NCBI36
NG_008341.1:g.15179_15180insCT
NG_008341.2:g.15179_15180insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-98_358-97insCT MANE Select	ENSP00000248633.4:n.358-98_358-97insCT
ENST00000248633.8:c.358-98_358-97insCT	ENSP00000248633.4:n.358-98_358-97insCT
ENST00000428214.5:c.358-98_358-97insCT	ENSP00000394413.1:n.358-98_358-97insCT
ENST00000438045.5:c.273+3749_273+3750insCT	ENSP00000410438.1:n.273+3749_273+3750insCT
ENST00000484913.5:n.397-98_397-97insCT
NM_000466.2:c.358-98_358-97insCT	NP_000457.1:n.358-98_358-97insCT
NM_001282677.1:c.358-98_358-97insCT	NP_001269606.1:n.358-98_358-97insCT
NM_001282678.1:c.-267-98_-267-97insCT	NP_001269607.1:n.-267-98_-267-97insCT
XR_242246.3:n.454-98_454-97insCT
XR_242246.5:n.405-98_405-97insCT
NM_000466.3:c.358-98_358-97insCT MANE Select	NP_000457.1:n.358-98_358-97insCT
NM_001282677.2:c.358-98_358-97insCT	NP_001269606.1:n.358-98_358-97insCT
NM_001282678.2:c.-267-98_-267-97insCT	NP_001269607.1:n.-267-98_-267-97insCT