Canonical Allele Identifier: CA1725926373

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489225_92489226delinsAG , CM000669.2:g.92489225_92489226delinsAG	GRCh38
NC_000007.13:g.92118539_92118540delinsAG , CM000669.1:g.92118539_92118540delinsAG	GRCh37
NC_000007.12:g.91956475_91956476delinsAG	NCBI36
NG_008341.1:g.44306_44307delinsCT
NG_008341.2:g.44306_44307delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+67_3767+68delinsCT (PEX1) MANE Select	ENSP00000248633.4:n.3767+67_3767+68delinsCT
ENST00000248633.8:c.3767+67_3767+68delinsCT (PEX1)	ENSP00000248633.4:n.3767+67_3767+68delinsCT
ENST00000428214.5:c.3596+67_3596+68delinsCT (PEX1)	ENSP00000394413.1:n.3596+67_3596+68delinsCT
ENST00000438045.5:c.2801+67_2801+68delinsCT (PEX1)	ENSP00000410438.1:n.2801+67_2801+68delinsCT
ENST00000477342.1:n.502+67_502+68delinsCT (PEX1)
ENST00000484913.5:n.3806+67_3806+68delinsCT (PEX1)
ENST00000496420.5:n.4817+67_4817+68delinsCT (PEX1)
NM_000466.2:c.3767+67_3767+68delinsCT (PEX1)	NP_000457.1:n.3767+67_3767+68delinsCT
NM_001282677.1:c.3596+67_3596+68delinsCT (PEX1)	NP_001269606.1:n.3596+67_3596+68delinsCT
NM_001282678.1:c.3143+67_3143+68delinsCT (PEX1)	NP_001269607.1:n.3143+67_3143+68delinsCT
XM_005250433.3:c.2018+67_2018+68delinsCT (PEX1)	XP_005250490.1:n.2018+67_2018+68delinsCT
XR_242246.3:n.3858+67_3858+68delinsCT (PEX1)
XR_927494.1:n.1036-2018_1036-2017delinsAG (GATAD1)
XR_927495.1:n.1036-861_1036-860delinsAG (GATAD1)
XR_927496.1:n.1041-2018_1041-2017delinsAG (GATAD1)
XR_927497.1:n.1036-861_1036-860delinsAG (GATAD1)
XR_927498.1:n.1124-2018_1124-2017delinsAG (GATAD1)
XR_927500.1:n.1033-2018_1033-2017delinsAG (GATAD1)
XR_927502.1:n.1033-861_1033-860delinsAG (GATAD1)
XR_927503.1:n.967-2018_967-2017delinsAG (GATAD1)
XM_017012319.2:c.2018+67_2018+68delinsCT (PEX1)	XP_016867808.1:n.2018+67_2018+68delinsCT
XR_001744808.2:n.2789+67_2789+68delinsCT (PEX1)
XR_001744842.2:n.2281-2018_2281-2017delinsAG (GATAD1)
XR_001744843.2:n.2212-2018_2212-2017delinsAG (GATAD1)
XR_002956472.1:n.2281-861_2281-860delinsAG (GATAD1)
XR_002956473.1:n.2369-2018_2369-2017delinsAG (GATAD1)
XR_002956474.1:n.2286-2018_2286-2017delinsAG (GATAD1)
XR_242246.5:n.3809+67_3809+68delinsCT (PEX1)
XR_927494.3:n.1063-2018_1063-2017delinsAG (GATAD1)
XR_927500.3:n.1060-2018_1060-2017delinsAG (GATAD1)
XR_927503.3:n.994-2018_994-2017delinsAG (GATAD1)
NM_000466.3:c.3767+67_3767+68delinsCT (PEX1) MANE Select	NP_000457.1:n.3767+67_3767+68delinsCT
NM_001282677.2:c.3596+67_3596+68delinsCT (PEX1)	NP_001269606.1:n.3596+67_3596+68delinsCT
NM_001282678.2:c.3143+67_3143+68delinsCT (PEX1)	NP_001269607.1:n.3143+67_3143+68delinsCT