Canonical Allele Identifier: CA2776947416

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518287_92518288insAG , CM000669.2:g.92518287_92518288insAG	GRCh38
NC_000007.13:g.92147601_92147602insAG , CM000669.1:g.92147601_92147602insAG	GRCh37
NC_000007.12:g.91985537_91985538insAG	NCBI36
NG_008341.1:g.15244_15245insCT
NG_008341.2:g.15244_15245insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-33_358-32insCT MANE Select	ENSP00000248633.4:n.358-33_358-32insCT
ENST00000248633.8:c.358-33_358-32insCT	ENSP00000248633.4:n.358-33_358-32insCT
ENST00000428214.5:c.358-33_358-32insCT	ENSP00000394413.1:n.358-33_358-32insCT
ENST00000438045.5:c.273+3814_273+3815insCT	ENSP00000410438.1:n.273+3814_273+3815insCT
ENST00000484913.5:n.397-33_397-32insCT
NM_000466.2:c.358-33_358-32insCT	NP_000457.1:n.358-33_358-32insCT
NM_001282677.1:c.358-33_358-32insCT	NP_001269606.1:n.358-33_358-32insCT
NM_001282678.1:c.-267-33_-267-32insCT	NP_001269607.1:n.-267-33_-267-32insCT
XR_242246.3:n.454-33_454-32insCT
XR_242246.5:n.405-33_405-32insCT
NM_000466.3:c.358-33_358-32insCT MANE Select	NP_000457.1:n.358-33_358-32insCT
NM_001282677.2:c.358-33_358-32insCT	NP_001269606.1:n.358-33_358-32insCT
NM_001282678.2:c.-267-33_-267-32insCT	NP_001269607.1:n.-267-33_-267-32insCT