Canonical Allele Identifier: CA1725926348

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489197_92489203delinsATATTTT , CM000669.2:g.92489197_92489203delinsATATTTT	GRCh38
NC_000007.13:g.92118511_92118517delinsATATTTT , CM000669.1:g.92118511_92118517delinsATATTTT	GRCh37
NC_000007.12:g.91956447_91956453delinsATATTTT	NCBI36
NG_008341.1:g.44329_44335delinsAAAATAT
NG_008341.2:g.44329_44335delinsAAAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+90_3767+96delinsAAAATAT (PEX1) MANE Select	ENSP00000248633.4:n.3767+90_3767+96delinsAAAATAT
ENST00000248633.8:c.3767+90_3767+96delinsAAAATAT (PEX1)	ENSP00000248633.4:n.3767+90_3767+96delinsAAAATAT
ENST00000428214.5:c.3596+90_3596+96delinsAAAATAT (PEX1)	ENSP00000394413.1:n.3596+90_3596+96delinsAAAATAT
ENST00000438045.5:c.2801+90_2801+96delinsAAAATAT (PEX1)	ENSP00000410438.1:n.2801+90_2801+96delinsAAAATAT
ENST00000477342.1:n.502+90_502+96delinsAAAATAT (PEX1)
ENST00000484913.5:n.3806+90_3806+96delinsAAAATAT (PEX1)
ENST00000496420.5:n.4817+90_4817+96delinsAAAATAT (PEX1)
NM_000466.2:c.3767+90_3767+96delinsAAAATAT (PEX1)	NP_000457.1:n.3767+90_3767+96delinsAAAATAT
NM_001282677.1:c.3596+90_3596+96delinsAAAATAT (PEX1)	NP_001269606.1:n.3596+90_3596+96delinsAAAATAT
NM_001282678.1:c.3143+90_3143+96delinsAAAATAT (PEX1)	NP_001269607.1:n.3143+90_3143+96delinsAAAATAT
XM_005250433.3:c.2018+90_2018+96delinsAAAATAT (PEX1)	XP_005250490.1:n.2018+90_2018+96delinsAAAATAT
XR_242246.3:n.3858+90_3858+96delinsAAAATAT (PEX1)
XR_927494.1:n.1036-2046_1036-2040delinsATATTTT (GATAD1)
XR_927495.1:n.1036-889_1036-883delinsATATTTT (GATAD1)
XR_927496.1:n.1041-2046_1041-2040delinsATATTTT (GATAD1)
XR_927497.1:n.1036-889_1036-883delinsATATTTT (GATAD1)
XR_927498.1:n.1124-2046_1124-2040delinsATATTTT (GATAD1)
XR_927500.1:n.1033-2046_1033-2040delinsATATTTT (GATAD1)
XR_927502.1:n.1033-889_1033-883delinsATATTTT (GATAD1)
XR_927503.1:n.967-2046_967-2040delinsATATTTT (GATAD1)
XM_017012319.2:c.2018+90_2018+96delinsAAAATAT (PEX1)	XP_016867808.1:n.2018+90_2018+96delinsAAAATAT
XR_001744808.2:n.2789+90_2789+96delinsAAAATAT (PEX1)
XR_001744842.2:n.2281-2046_2281-2040delinsATATTTT (GATAD1)
XR_001744843.2:n.2212-2046_2212-2040delinsATATTTT (GATAD1)
XR_002956472.1:n.2281-889_2281-883delinsATATTTT (GATAD1)
XR_002956473.1:n.2369-2046_2369-2040delinsATATTTT (GATAD1)
XR_002956474.1:n.2286-2046_2286-2040delinsATATTTT (GATAD1)
XR_242246.5:n.3809+90_3809+96delinsAAAATAT (PEX1)
XR_927494.3:n.1063-2046_1063-2040delinsATATTTT (GATAD1)
XR_927500.3:n.1060-2046_1060-2040delinsATATTTT (GATAD1)
XR_927503.3:n.994-2046_994-2040delinsATATTTT (GATAD1)
NM_000466.3:c.3767+90_3767+96delinsAAAATAT (PEX1) MANE Select	NP_000457.1:n.3767+90_3767+96delinsAAAATAT
NM_001282677.2:c.3596+90_3596+96delinsAAAATAT (PEX1)	NP_001269606.1:n.3596+90_3596+96delinsAAAATAT
NM_001282678.2:c.3143+90_3143+96delinsAAAATAT (PEX1)	NP_001269607.1:n.3143+90_3143+96delinsAAAATAT