Canonical Allele Identifier: CA1725926430

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489282_92489283delinsCT , CM000669.2:g.92489282_92489283delinsCT	GRCh38
NC_000007.13:g.92118596_92118597delinsCT , CM000669.1:g.92118596_92118597delinsCT	GRCh37
NC_000007.12:g.91956532_91956533delinsCT	NCBI36
NG_008341.1:g.44249_44250delinsAG
NG_008341.2:g.44249_44250delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+10_3767+11delinsAG (PEX1) MANE Select	ENSP00000248633.4:n.3767+10_3767+11delinsAG
ENST00000248633.8:c.3767+10_3767+11delinsAG (PEX1)	ENSP00000248633.4:n.3767+10_3767+11delinsAG
ENST00000428214.5:c.3596+10_3596+11delinsAG (PEX1)	ENSP00000394413.1:n.3596+10_3596+11delinsAG
ENST00000438045.5:c.2801+10_2801+11delinsAG (PEX1)	ENSP00000410438.1:n.2801+10_2801+11delinsAG
ENST00000477342.1:n.502+10_502+11delinsAG (PEX1)
ENST00000484913.5:n.3806+10_3806+11delinsAG (PEX1)
ENST00000496420.5:n.4817+10_4817+11delinsAG (PEX1)
NM_000466.2:c.3767+10_3767+11delinsAG (PEX1)	NP_000457.1:n.3767+10_3767+11delinsAG
NM_001282677.1:c.3596+10_3596+11delinsAG (PEX1)	NP_001269606.1:n.3596+10_3596+11delinsAG
NM_001282678.1:c.3143+10_3143+11delinsAG (PEX1)	NP_001269607.1:n.3143+10_3143+11delinsAG
XM_005250433.3:c.2018+10_2018+11delinsAG (PEX1)	XP_005250490.1:n.2018+10_2018+11delinsAG
XR_242246.3:n.3858+10_3858+11delinsAG (PEX1)
XR_927494.1:n.1036-1961_1036-1960delinsCT (GATAD1)
XR_927495.1:n.1036-804_1036-803delinsCT (GATAD1)
XR_927496.1:n.1041-1961_1041-1960delinsCT (GATAD1)
XR_927497.1:n.1036-804_1036-803delinsCT (GATAD1)
XR_927498.1:n.1124-1961_1124-1960delinsCT (GATAD1)
XR_927500.1:n.1033-1961_1033-1960delinsCT (GATAD1)
XR_927502.1:n.1033-804_1033-803delinsCT (GATAD1)
XR_927503.1:n.967-1961_967-1960delinsCT (GATAD1)
XM_017012319.2:c.2018+10_2018+11delinsAG (PEX1)	XP_016867808.1:n.2018+10_2018+11delinsAG
XR_001744808.2:n.2789+10_2789+11delinsAG (PEX1)
XR_001744842.2:n.2281-1961_2281-1960delinsCT (GATAD1)
XR_001744843.2:n.2212-1961_2212-1960delinsCT (GATAD1)
XR_002956472.1:n.2281-804_2281-803delinsCT (GATAD1)
XR_002956473.1:n.2369-1961_2369-1960delinsCT (GATAD1)
XR_002956474.1:n.2286-1961_2286-1960delinsCT (GATAD1)
XR_242246.5:n.3809+10_3809+11delinsAG (PEX1)
XR_927494.3:n.1063-1961_1063-1960delinsCT (GATAD1)
XR_927500.3:n.1060-1961_1060-1960delinsCT (GATAD1)
XR_927503.3:n.994-1961_994-1960delinsCT (GATAD1)
NM_000466.3:c.3767+10_3767+11delinsAG (PEX1) MANE Select	NP_000457.1:n.3767+10_3767+11delinsAG
NM_001282677.2:c.3596+10_3596+11delinsAG (PEX1)	NP_001269606.1:n.3596+10_3596+11delinsAG
NM_001282678.2:c.3143+10_3143+11delinsAG (PEX1)	NP_001269607.1:n.3143+10_3143+11delinsAG