Canonical Allele Identifier: CA1725941067

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506260_92506262delinsTAC , CM000669.2:g.92506260_92506262delinsTAC	GRCh38
NC_000007.13:g.92135574_92135576delinsTAC , CM000669.1:g.92135574_92135576delinsTAC	GRCh37
NC_000007.12:g.91973510_91973512delinsTAC	NCBI36
NG_008341.1:g.27270_27272delinsGTA
NG_008341.2:g.27270_27272delinsGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1886_1888delinsGTA MANE Select	ENSP00000248633.4:p.Cys629=
ENST00000248633.8:c.1886_1888delinsGTA	ENSP00000248633.4:p.Cys629=
ENST00000422866.1:c.704_706delinsGTA
ENST00000428214.5:c.1886_1888delinsGTA	ENSP00000394413.1:p.Cys629=
ENST00000438045.5:c.920_922delinsGTA	ENSP00000410438.1:p.Cys307=
ENST00000484913.5:n.1925_1927delinsGTA
ENST00000496420.5:n.1562_1564delinsGTA
NM_000466.2:c.1886_1888delinsGTA	NP_000457.1:p.Cys629=
NM_001282677.1:c.1886_1888delinsGTA	NP_001269606.1:p.Cys629=
NM_001282678.1:c.1262_1264delinsGTA	NP_001269607.1:p.Cys421=
XM_005250433.3:c.137_139delinsGTA	XP_005250490.1:p.Cys46=
XR_242246.3:n.1982_1984delinsGTA
XM_017012319.2:c.137_139delinsGTA	XP_016867808.1:p.Cys46=
XR_001744808.2:n.913_915delinsGTA
XR_242246.5:n.1933_1935delinsGTA
NM_000466.3:c.1886_1888delinsGTA MANE Select	NP_000457.1:p.Cys629=
NM_001282677.2:c.1886_1888delinsGTA	NP_001269606.1:p.Cys629=
NM_001282678.2:c.1262_1264delinsGTA	NP_001269607.1:p.Cys421=