Canonical Allele Identifier: CA1725927017

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489772_92489773delinsCT , CM000669.2:g.92489772_92489773delinsCT	GRCh38
NC_000007.13:g.92119086_92119087delinsCT , CM000669.1:g.92119086_92119087delinsCT	GRCh37
NC_000007.12:g.91957022_91957023delinsCT	NCBI36
NG_008341.1:g.43759_43760delinsAG
NG_008341.2:g.43759_43760delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3577_3578delinsAG (PEX1) MANE Select	ENSP00000248633.4:p.Arg1193=
ENST00000248633.8:c.3577_3578delinsAG (PEX1)	ENSP00000248633.4:p.Arg1193=
ENST00000428214.5:c.3406_3407delinsAG (PEX1)	ENSP00000394413.1:p.Arg1136=
ENST00000438045.5:c.2611_2612delinsAG (PEX1)	ENSP00000410438.1:p.Arg871=
ENST00000469417.1:n.474_475delinsAG (PEX1)
ENST00000477342.1:n.22_23delinsAG (PEX1)
ENST00000484913.5:n.3616_3617delinsAG (PEX1)
ENST00000496420.5:n.4632_4633delinsAG (PEX1)
NM_000466.2:c.3577_3578delinsAG (PEX1)	NP_000457.1:p.Arg1193=
NM_001282677.1:c.3406_3407delinsAG (PEX1)	NP_001269606.1:p.Arg1136=
NM_001282678.1:c.2953_2954delinsAG (PEX1)	NP_001269607.1:p.Arg985=
XM_005250433.3:c.1828_1829delinsAG (PEX1)	XP_005250490.1:p.Arg610=
XR_242246.3:n.3673_3674delinsAG (PEX1)
XR_927494.1:n.1036-1471_1036-1470delinsCT (GATAD1)
XR_927495.1:n.1036-314_1036-313delinsCT (GATAD1)
XR_927496.1:n.1041-1471_1041-1470delinsCT (GATAD1)
XR_927497.1:n.1036-314_1036-313delinsCT (GATAD1)
XR_927498.1:n.1124-1471_1124-1470delinsCT (GATAD1)
XR_927500.1:n.1033-1471_1033-1470delinsCT (GATAD1)
XR_927502.1:n.1033-314_1033-313delinsCT (GATAD1)
XR_927503.1:n.967-1471_967-1470delinsCT (GATAD1)
XM_017012319.2:c.1828_1829delinsAG (PEX1)	XP_016867808.1:p.Arg610=
XR_001744808.2:n.2604_2605delinsAG (PEX1)
XR_001744842.2:n.2281-1471_2281-1470delinsCT (GATAD1)
XR_001744843.2:n.2212-1471_2212-1470delinsCT (GATAD1)
XR_002956472.1:n.2281-314_2281-313delinsCT (GATAD1)
XR_002956473.1:n.2369-1471_2369-1470delinsCT (GATAD1)
XR_002956474.1:n.2286-1471_2286-1470delinsCT (GATAD1)
XR_242246.5:n.3624_3625delinsAG (PEX1)
XR_927494.3:n.1063-1471_1063-1470delinsCT (GATAD1)
XR_927500.3:n.1060-1471_1060-1470delinsCT (GATAD1)
XR_927503.3:n.994-1471_994-1470delinsCT (GATAD1)
NM_000466.3:c.3577_3578delinsAG (PEX1) MANE Select	NP_000457.1:p.Arg1193=
NM_001282677.2:c.3406_3407delinsAG (PEX1)	NP_001269606.1:p.Arg1136=
NM_001282678.2:c.2953_2954delinsAG (PEX1)	NP_001269607.1:p.Arg985=