Canonical Allele Identifier: CA1725937875

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510982_92510983delinsGA , CM000669.2:g.92510982_92510983delinsGA	GRCh38
NC_000007.13:g.92140296_92140297delinsGA , CM000669.1:g.92140296_92140297delinsGA	GRCh37
NC_000007.12:g.91978232_91978233delinsGA	NCBI36
NG_008341.1:g.22549_22550delinsTC
NG_008341.2:g.22549_22550delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1548_1549delinsTC MANE Select	ENSP00000248633.4:p.Phe516=
ENST00000248633.8:c.1548_1549delinsTC	ENSP00000248633.4:p.Phe516=
ENST00000422866.1:c.449_450delinsTC
ENST00000428214.5:c.1548_1549delinsTC	ENSP00000394413.1:p.Phe516=
ENST00000438045.5:c.582_583delinsTC	ENSP00000410438.1:p.Phe194=
ENST00000476923.1:n.309_310delinsTC
ENST00000484913.5:n.1587_1588delinsTC
NM_000466.2:c.1548_1549delinsTC	NP_000457.1:p.Phe516=
NM_001282677.1:c.1548_1549delinsTC	NP_001269606.1:p.Phe516=
NM_001282678.1:c.924_925delinsTC	NP_001269607.1:p.Phe308=
XM_005250433.3:c.-119_-118delinsTC	XP_005250490.1:n.-119_-118delinsTC
XR_242246.3:n.1644_1645delinsTC
XM_017012319.2:c.-119_-118delinsTC	XP_016867808.1:n.-119_-118delinsTC
XR_001744808.2:n.658_659delinsTC
XR_242246.5:n.1595_1596delinsTC
NM_000466.3:c.1548_1549delinsTC MANE Select	NP_000457.1:p.Phe516=
NM_001282677.2:c.1548_1549delinsTC	NP_001269606.1:p.Phe516=
NM_001282678.2:c.924_925delinsTC	NP_001269607.1:p.Phe308=