Canonical Allele Identifier: CA1725926322

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489164_92489166delinsCAT , CM000669.2:g.92489164_92489166delinsCAT	GRCh38
NC_000007.13:g.92118478_92118480delinsCAT , CM000669.1:g.92118478_92118480delinsCAT	GRCh37
NC_000007.12:g.91956414_91956416delinsCAT	NCBI36
NG_008341.1:g.44366_44368delinsATG
NG_008341.2:g.44366_44368delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+127_3767+129delinsATG (PEX1) MANE Select	ENSP00000248633.4:n.3767+127_3767+129delinsATG
ENST00000248633.8:c.3767+127_3767+129delinsATG (PEX1)	ENSP00000248633.4:n.3767+127_3767+129delinsATG
ENST00000428214.5:c.3596+127_3596+129delinsATG (PEX1)	ENSP00000394413.1:n.3596+127_3596+129delinsATG
ENST00000438045.5:c.2801+127_2801+129delinsATG (PEX1)	ENSP00000410438.1:n.2801+127_2801+129delinsATG
ENST00000477342.1:n.502+127_502+129delinsATG (PEX1)
ENST00000484913.5:n.3806+127_3806+129delinsATG (PEX1)
ENST00000496420.5:n.4817+127_4817+129delinsATG (PEX1)
NM_000466.2:c.3767+127_3767+129delinsATG (PEX1)	NP_000457.1:n.3767+127_3767+129delinsATG
NM_001282677.1:c.3596+127_3596+129delinsATG (PEX1)	NP_001269606.1:n.3596+127_3596+129delinsATG
NM_001282678.1:c.3143+127_3143+129delinsATG (PEX1)	NP_001269607.1:n.3143+127_3143+129delinsATG
XM_005250433.3:c.2018+127_2018+129delinsATG (PEX1)	XP_005250490.1:n.2018+127_2018+129delinsATG
XR_242246.3:n.3858+127_3858+129delinsATG (PEX1)
XR_927494.1:n.1036-2079_1036-2077delinsCAT (GATAD1)
XR_927495.1:n.1036-922_1036-920delinsCAT (GATAD1)
XR_927496.1:n.1041-2079_1041-2077delinsCAT (GATAD1)
XR_927497.1:n.1036-922_1036-920delinsCAT (GATAD1)
XR_927498.1:n.1124-2079_1124-2077delinsCAT (GATAD1)
XR_927500.1:n.1033-2079_1033-2077delinsCAT (GATAD1)
XR_927502.1:n.1033-922_1033-920delinsCAT (GATAD1)
XR_927503.1:n.967-2079_967-2077delinsCAT (GATAD1)
XM_017012319.2:c.2018+127_2018+129delinsATG (PEX1)	XP_016867808.1:n.2018+127_2018+129delinsATG
XR_001744808.2:n.2789+127_2789+129delinsATG (PEX1)
XR_001744842.2:n.2281-2079_2281-2077delinsCAT (GATAD1)
XR_001744843.2:n.2212-2079_2212-2077delinsCAT (GATAD1)
XR_002956472.1:n.2281-922_2281-920delinsCAT (GATAD1)
XR_002956473.1:n.2369-2079_2369-2077delinsCAT (GATAD1)
XR_002956474.1:n.2286-2079_2286-2077delinsCAT (GATAD1)
XR_242246.5:n.3809+127_3809+129delinsATG (PEX1)
XR_927494.3:n.1063-2079_1063-2077delinsCAT (GATAD1)
XR_927500.3:n.1060-2079_1060-2077delinsCAT (GATAD1)
XR_927503.3:n.994-2079_994-2077delinsCAT (GATAD1)
NM_000466.3:c.3767+127_3767+129delinsATG (PEX1) MANE Select	NP_000457.1:n.3767+127_3767+129delinsATG
NM_001282677.2:c.3596+127_3596+129delinsATG (PEX1)	NP_001269606.1:n.3596+127_3596+129delinsATG
NM_001282678.2:c.3143+127_3143+129delinsATG (PEX1)	NP_001269607.1:n.3143+127_3143+129delinsATG