Canonical Allele Identifier: CA1725926497

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489330_92489331delinsAT , CM000669.2:g.92489330_92489331delinsAT	GRCh38
NC_000007.13:g.92118644_92118645delinsAT , CM000669.1:g.92118644_92118645delinsAT	GRCh37
NC_000007.12:g.91956580_91956581delinsAT	NCBI36
NG_008341.1:g.44201_44202delinsAT
NG_008341.2:g.44201_44202delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3729_3730delinsAT (PEX1) MANE Select	ENSP00000248633.4:p.Pro1243=
ENST00000248633.8:c.3729_3730delinsAT (PEX1)	ENSP00000248633.4:p.Pro1243=
ENST00000428214.5:c.3558_3559delinsAT (PEX1)	ENSP00000394413.1:p.Pro1186=
ENST00000438045.5:c.2763_2764delinsAT (PEX1)	ENSP00000410438.1:p.Pro921=
ENST00000477342.1:n.464_465delinsAT (PEX1)
ENST00000484913.5:n.3768_3769delinsAT (PEX1)
ENST00000496420.5:n.4779_4780delinsAT (PEX1)
NM_000466.2:c.3729_3730delinsAT (PEX1)	NP_000457.1:p.Pro1243=
NM_001282677.1:c.3558_3559delinsAT (PEX1)	NP_001269606.1:p.Pro1186=
NM_001282678.1:c.3105_3106delinsAT (PEX1)	NP_001269607.1:p.Pro1035=
XM_005250433.3:c.1980_1981delinsAT (PEX1)	XP_005250490.1:p.Pro660=
XR_242246.3:n.3820_3821delinsAT (PEX1)
XR_927494.1:n.1036-1913_1036-1912delinsAT (GATAD1)
XR_927495.1:n.1036-756_1036-755delinsAT (GATAD1)
XR_927496.1:n.1041-1913_1041-1912delinsAT (GATAD1)
XR_927497.1:n.1036-756_1036-755delinsAT (GATAD1)
XR_927498.1:n.1124-1913_1124-1912delinsAT (GATAD1)
XR_927500.1:n.1033-1913_1033-1912delinsAT (GATAD1)
XR_927502.1:n.1033-756_1033-755delinsAT (GATAD1)
XR_927503.1:n.967-1913_967-1912delinsAT (GATAD1)
XM_017012319.2:c.1980_1981delinsAT (PEX1)	XP_016867808.1:p.Pro660=
XR_001744808.2:n.2751_2752delinsAT (PEX1)
XR_001744842.2:n.2281-1913_2281-1912delinsAT (GATAD1)
XR_001744843.2:n.2212-1913_2212-1912delinsAT (GATAD1)
XR_002956472.1:n.2281-756_2281-755delinsAT (GATAD1)
XR_002956473.1:n.2369-1913_2369-1912delinsAT (GATAD1)
XR_002956474.1:n.2286-1913_2286-1912delinsAT (GATAD1)
XR_242246.5:n.3771_3772delinsAT (PEX1)
XR_927494.3:n.1063-1913_1063-1912delinsAT (GATAD1)
XR_927500.3:n.1060-1913_1060-1912delinsAT (GATAD1)
XR_927503.3:n.994-1913_994-1912delinsAT (GATAD1)
NM_000466.3:c.3729_3730delinsAT (PEX1) MANE Select	NP_000457.1:p.Pro1243=
NM_001282677.2:c.3558_3559delinsAT (PEX1)	NP_001269606.1:p.Pro1186=
NM_001282678.2:c.3105_3106delinsAT (PEX1)	NP_001269607.1:p.Pro1035=