Canonical Allele Identifier: CA1725926546

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489363_92489367delinsGTGAC , CM000669.2:g.92489363_92489367delinsGTGAC	GRCh38
NC_000007.13:g.92118677_92118681delinsGTGAC , CM000669.1:g.92118677_92118681delinsGTGAC	GRCh37
NC_000007.12:g.91956613_91956617delinsGTGAC	NCBI36
NG_008341.1:g.44165_44169delinsGTCAC
NG_008341.2:g.44165_44169delinsGTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3693_3697delinsGTCAC (PEX1) MANE Select	ENSP00000248633.4:p.Gln1231=
ENST00000248633.8:c.3693_3697delinsGTCAC (PEX1)	ENSP00000248633.4:p.Gln1231=
ENST00000428214.5:c.3522_3526delinsGTCAC (PEX1)	ENSP00000394413.1:p.Gln1174=
ENST00000438045.5:c.2727_2731delinsGTCAC (PEX1)	ENSP00000410438.1:p.Gln909=
ENST00000477342.1:n.428_432delinsGTCAC (PEX1)
ENST00000484913.5:n.3732_3736delinsGTCAC (PEX1)
ENST00000496420.5:n.4743_4747delinsGTCAC (PEX1)
NM_000466.2:c.3693_3697delinsGTCAC (PEX1)	NP_000457.1:p.Gln1231=
NM_001282677.1:c.3522_3526delinsGTCAC (PEX1)	NP_001269606.1:p.Gln1174=
NM_001282678.1:c.3069_3073delinsGTCAC (PEX1)	NP_001269607.1:p.Gln1023=
XM_005250433.3:c.1944_1948delinsGTCAC (PEX1)	XP_005250490.1:p.Gln648=
XR_242246.3:n.3784_3788delinsGTCAC (PEX1)
XR_927494.1:n.1036-1880_1036-1876delinsGTGAC (GATAD1)
XR_927495.1:n.1036-723_1036-719delinsGTGAC (GATAD1)
XR_927496.1:n.1041-1880_1041-1876delinsGTGAC (GATAD1)
XR_927497.1:n.1036-723_1036-719delinsGTGAC (GATAD1)
XR_927498.1:n.1124-1880_1124-1876delinsGTGAC (GATAD1)
XR_927500.1:n.1033-1880_1033-1876delinsGTGAC (GATAD1)
XR_927502.1:n.1033-723_1033-719delinsGTGAC (GATAD1)
XR_927503.1:n.967-1880_967-1876delinsGTGAC (GATAD1)
XM_017012319.2:c.1944_1948delinsGTCAC (PEX1)	XP_016867808.1:p.Gln648=
XR_001744808.2:n.2715_2719delinsGTCAC (PEX1)
XR_001744842.2:n.2281-1880_2281-1876delinsGTGAC (GATAD1)
XR_001744843.2:n.2212-1880_2212-1876delinsGTGAC (GATAD1)
XR_002956472.1:n.2281-723_2281-719delinsGTGAC (GATAD1)
XR_002956473.1:n.2369-1880_2369-1876delinsGTGAC (GATAD1)
XR_002956474.1:n.2286-1880_2286-1876delinsGTGAC (GATAD1)
XR_242246.5:n.3735_3739delinsGTCAC (PEX1)
XR_927494.3:n.1063-1880_1063-1876delinsGTGAC (GATAD1)
XR_927500.3:n.1060-1880_1060-1876delinsGTGAC (GATAD1)
XR_927503.3:n.994-1880_994-1876delinsGTGAC (GATAD1)
NM_000466.3:c.3693_3697delinsGTCAC (PEX1) MANE Select	NP_000457.1:p.Gln1231=
NM_001282677.2:c.3522_3526delinsGTCAC (PEX1)	NP_001269606.1:p.Gln1174=
NM_001282678.2:c.3069_3073delinsGTCAC (PEX1)	NP_001269607.1:p.Gln1023=