Canonical Allele Identifier: CA1725948489

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518168_92518178delinsGATCAACCCAA , CM000669.2:g.92518168_92518178delinsGATCAACCCAA	GRCh38
NC_000007.13:g.92147482_92147492delinsGATCAACCCAA , CM000669.1:g.92147482_92147492delinsGATCAACCCAA	GRCh37
NC_000007.12:g.91985418_91985428delinsGATCAACCCAA	NCBI36
NG_008341.1:g.15354_15364delinsTTGGGTTGATC
NG_008341.2:g.15354_15364delinsTTGGGTTGATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.435_445delinsTTGGGTTGATC MANE Select	ENSP00000248633.4:p.Val145=
ENST00000248633.8:c.435_445delinsTTGGGTTGATC	ENSP00000248633.4:p.Val145=
ENST00000428214.5:c.435_445delinsTTGGGTTGATC	ENSP00000394413.1:p.Val145=
ENST00000438045.5:c.273+3924_273+3934delinsTTGGGTTGATC	ENSP00000410438.1:n.273+3924_273+3934deli...
ENST00000484913.5:n.474_484delinsTTGGGTTGATC
NM_000466.2:c.435_445delinsTTGGGTTGATC	NP_000457.1:p.Val145=
NM_001282677.1:c.435_445delinsTTGGGTTGATC	NP_001269606.1:p.Val145=
NM_001282678.1:c.-190_-180delinsTTGGGTTGATC	NP_001269607.1:n.-190_-180delinsTTGGGTTGA...
XR_242246.3:n.531_541delinsTTGGGTTGATC
XR_242246.5:n.482_492delinsTTGGGTTGATC
NM_000466.3:c.435_445delinsTTGGGTTGATC MANE Select	NP_000457.1:p.Val145=
NM_001282677.2:c.435_445delinsTTGGGTTGATC	NP_001269606.1:p.Val145=
NM_001282678.2:c.-190_-180delinsTTGGGTTGATC	NP_001269607.1:n.-190_-180delinsTTGGGTTGA...