Canonical Allele Identifier: CA2776945326

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489417_92489418insACAG , CM000669.2:g.92489417_92489418insACAG	GRCh38
NC_000007.13:g.92118731_92118732insACAG , CM000669.1:g.92118731_92118732insACAG	GRCh37
NC_000007.12:g.91956667_91956668insACAG	NCBI36
NG_008341.1:g.44114_44115insCTGT
NG_008341.2:g.44114_44115insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3642_3643insCTGT (PEX1) MANE Select	ENSP00000248633.4:p.Glu1215LeufsTer2
ENST00000248633.8:c.3642_3643insCTGT (PEX1)	ENSP00000248633.4:p.Glu1215LeufsTer2
ENST00000428214.5:c.3471_3472insCTGT (PEX1)	ENSP00000394413.1:p.Glu1158LeufsTer2
ENST00000438045.5:c.2676_2677insCTGT (PEX1)	ENSP00000410438.1:p.Glu893LeufsTer2
ENST00000469417.1:n.539_540insCTGT (PEX1)
ENST00000477342.1:n.377_378insCTGT (PEX1)
ENST00000484913.5:n.3681_3682insCTGT (PEX1)
ENST00000496420.5:n.4692_4693insCTGT (PEX1)
NM_000466.2:c.3642_3643insCTGT (PEX1)	NP_000457.1:p.Glu1215LeufsTer2
NM_001282677.1:c.3471_3472insCTGT (PEX1)	NP_001269606.1:p.Glu1158LeufsTer2
NM_001282678.1:c.3018_3019insCTGT (PEX1)	NP_001269607.1:p.Glu1007LeufsTer2
XM_005250433.3:c.1893_1894insCTGT (PEX1)	XP_005250490.1:p.Glu632LeufsTer2
XR_242246.3:n.3733_3734insCTGT (PEX1)
XR_927494.1:n.1036-1826_1036-1825insACAG (GATAD1)
XR_927495.1:n.1036-669_1036-668insACAG (GATAD1)
XR_927496.1:n.1041-1826_1041-1825insACAG (GATAD1)
XR_927497.1:n.1036-669_1036-668insACAG (GATAD1)
XR_927498.1:n.1124-1826_1124-1825insACAG (GATAD1)
XR_927500.1:n.1033-1826_1033-1825insACAG (GATAD1)
XR_927502.1:n.1033-669_1033-668insACAG (GATAD1)
XR_927503.1:n.967-1826_967-1825insACAG (GATAD1)
XM_017012319.2:c.1893_1894insCTGT (PEX1)	XP_016867808.1:p.Glu632LeufsTer2
XR_001744808.2:n.2664_2665insCTGT (PEX1)
XR_001744842.2:n.2281-1826_2281-1825insACAG (GATAD1)
XR_001744843.2:n.2212-1826_2212-1825insACAG (GATAD1)
XR_002956472.1:n.2281-669_2281-668insACAG (GATAD1)
XR_002956473.1:n.2369-1826_2369-1825insACAG (GATAD1)
XR_002956474.1:n.2286-1826_2286-1825insACAG (GATAD1)
XR_242246.5:n.3684_3685insCTGT (PEX1)
XR_927494.3:n.1063-1826_1063-1825insACAG (GATAD1)
XR_927500.3:n.1060-1826_1060-1825insACAG (GATAD1)
XR_927503.3:n.994-1826_994-1825insACAG (GATAD1)
NM_000466.3:c.3642_3643insCTGT (PEX1) MANE Select	NP_000457.1:p.Glu1215LeufsTer2
NM_001282677.2:c.3471_3472insCTGT (PEX1)	NP_001269606.1:p.Glu1158LeufsTer2
NM_001282678.2:c.3018_3019insCTGT (PEX1)	NP_001269607.1:p.Glu1007LeufsTer2