Canonical Allele Identifier: CA1725951682

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522225_92522228delinsGACC , CM000669.2:g.92522225_92522228delinsGACC	GRCh38
NC_000007.13:g.92151539_92151542delinsGACC , CM000669.1:g.92151539_92151542delinsGACC	GRCh37
NC_000007.12:g.91989475_91989478delinsGACC	NCBI36
NG_008341.1:g.11304_11307delinsGGTC
NG_008341.2:g.11304_11307delinsGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.147_150delinsGGTC MANE Select	ENSP00000248633.4:p.Val49=
ENST00000248633.8:c.147_150delinsGGTC	ENSP00000248633.4:p.Val49=
ENST00000428214.5:c.147_150delinsGGTC	ENSP00000394413.1:p.Val49=
ENST00000438045.5:c.147_150delinsGGTC	ENSP00000410438.1:p.Val49=
ENST00000484913.5:n.151_154delinsGGTC
NM_000466.2:c.147_150delinsGGTC	NP_000457.1:p.Val49=
NM_001282677.1:c.147_150delinsGGTC	NP_001269606.1:p.Val49=
NM_001282678.1:c.-513_-510delinsGGTC	NP_001269607.1:n.-513_-510delinsGGTC
XR_242246.3:n.243_246delinsGGTC
XR_242246.5:n.194_197delinsGGTC
NM_000466.3:c.147_150delinsGGTC MANE Select	NP_000457.1:p.Val49=
NM_001282677.2:c.147_150delinsGGTC	NP_001269606.1:p.Val49=
NM_001282678.2:c.-513_-510delinsGGTC	NP_001269607.1:n.-513_-510delinsGGTC