Canonical Allele Identifier: CA1725926234

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489044_92489049delinsAAAATT , CM000669.2:g.92489044_92489049delinsAAAATT	GRCh38
NC_000007.13:g.92118358_92118363delinsAAAATT , CM000669.1:g.92118358_92118363delinsAAAATT	GRCh37
NC_000007.12:g.91956294_91956299delinsAAAATT	NCBI36
NG_008341.1:g.44483_44488delinsAATTTT
NG_008341.2:g.44483_44488delinsAATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+244_3767+249delinsAATTTT (PEX1) MANE Select	ENSP00000248633.4:n.3767+244_3767+249delinsAATTTT
ENST00000248633.8:c.3767+244_3767+249delinsAATTTT (PEX1)	ENSP00000248633.4:n.3767+244_3767+249delinsAATTTT
ENST00000428214.5:c.3596+244_3596+249delinsAATTTT (PEX1)	ENSP00000394413.1:n.3596+244_3596+249delinsAATTTT
ENST00000438045.5:c.2801+244_2801+249delinsAATTTT (PEX1)	ENSP00000410438.1:n.2801+244_2801+249delinsAATTTT
ENST00000477342.1:n.502+244_502+249delinsAATTTT (PEX1)
ENST00000484913.5:n.3806+244_3806+249delinsAATTTT (PEX1)
ENST00000496420.5:n.4817+244_4817+249delinsAATTTT (PEX1)
NM_000466.2:c.3767+244_3767+249delinsAATTTT (PEX1)	NP_000457.1:n.3767+244_3767+249delinsAATTTT
NM_001282677.1:c.3596+244_3596+249delinsAATTTT (PEX1)	NP_001269606.1:n.3596+244_3596+249delinsAATTTT
NM_001282678.1:c.3143+244_3143+249delinsAATTTT (PEX1)	NP_001269607.1:n.3143+244_3143+249delinsAATTTT
XM_005250433.3:c.2018+244_2018+249delinsAATTTT (PEX1)	XP_005250490.1:n.2018+244_2018+249delinsAATTTT
XR_242246.3:n.3858+244_3858+249delinsAATTTT (PEX1)
XR_927494.1:n.1036-2199_1036-2194delinsAAAATT (GATAD1)
XR_927495.1:n.1036-1042_1036-1037delinsAAAATT (GATAD1)
XR_927496.1:n.1041-2199_1041-2194delinsAAAATT (GATAD1)
XR_927497.1:n.1036-1042_1036-1037delinsAAAATT (GATAD1)
XR_927498.1:n.1124-2199_1124-2194delinsAAAATT (GATAD1)
XR_927500.1:n.1033-2199_1033-2194delinsAAAATT (GATAD1)
XR_927502.1:n.1033-1042_1033-1037delinsAAAATT (GATAD1)
XR_927503.1:n.967-2199_967-2194delinsAAAATT (GATAD1)
XM_017012319.2:c.2018+244_2018+249delinsAATTTT (PEX1)	XP_016867808.1:n.2018+244_2018+249delinsAATTTT
XR_001744808.2:n.2789+244_2789+249delinsAATTTT (PEX1)
XR_001744842.2:n.2281-2199_2281-2194delinsAAAATT (GATAD1)
XR_001744843.2:n.2212-2199_2212-2194delinsAAAATT (GATAD1)
XR_002956472.1:n.2281-1042_2281-1037delinsAAAATT (GATAD1)
XR_002956473.1:n.2369-2199_2369-2194delinsAAAATT (GATAD1)
XR_002956474.1:n.2286-2199_2286-2194delinsAAAATT (GATAD1)
XR_242246.5:n.3809+244_3809+249delinsAATTTT (PEX1)
XR_927494.3:n.1063-2199_1063-2194delinsAAAATT (GATAD1)
XR_927500.3:n.1060-2199_1060-2194delinsAAAATT (GATAD1)
XR_927503.3:n.994-2199_994-2194delinsAAAATT (GATAD1)
NM_000466.3:c.3767+244_3767+249delinsAATTTT (PEX1) MANE Select	NP_000457.1:n.3767+244_3767+249delinsAATTTT
NM_001282677.2:c.3596+244_3596+249delinsAATTTT (PEX1)	NP_001269606.1:n.3596+244_3596+249delinsAATTTT
NM_001282678.2:c.3143+244_3143+249delinsAATTTT (PEX1)	NP_001269607.1:n.3143+244_3143+249delinsAATTTT