Canonical Allele Identifier: CA2776945327

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489422_92489423insAGA , CM000669.2:g.92489422_92489423insAGA	GRCh38
NC_000007.13:g.92118736_92118737insAGA , CM000669.1:g.92118736_92118737insAGA	GRCh37
NC_000007.12:g.91956672_91956673insAGA	NCBI36
NG_008341.1:g.44109_44110insTCT
NG_008341.2:g.44109_44110insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637_3638insTCT (PEX1) MANE Select	ENSP00000248633.4:p.Glu1213ValfsTer2
ENST00000248633.8:c.3637_3638insTCT (PEX1)	ENSP00000248633.4:p.Glu1213ValfsTer2
ENST00000428214.5:c.3466_3467insTCT (PEX1)	ENSP00000394413.1:p.Glu1156ValfsTer2
ENST00000438045.5:c.2671_2672insTCT (PEX1)	ENSP00000410438.1:p.Glu891ValfsTer2
ENST00000469417.1:n.534_535insTCT (PEX1)
ENST00000477342.1:n.372_373insTCT (PEX1)
ENST00000484913.5:n.3676_3677insTCT (PEX1)
ENST00000496420.5:n.4687_4688insTCT (PEX1)
NM_000466.2:c.3637_3638insTCT (PEX1)	NP_000457.1:p.Glu1213ValfsTer2
NM_001282677.1:c.3466_3467insTCT (PEX1)	NP_001269606.1:p.Glu1156ValfsTer2
NM_001282678.1:c.3013_3014insTCT (PEX1)	NP_001269607.1:p.Glu1005ValfsTer2
XM_005250433.3:c.1888_1889insTCT (PEX1)	XP_005250490.1:p.Glu630ValfsTer2
XR_242246.3:n.3728_3729insTCT (PEX1)
XR_927494.1:n.1036-1821_1036-1820insAGA (GATAD1)
XR_927495.1:n.1036-664_1036-663insAGA (GATAD1)
XR_927496.1:n.1041-1821_1041-1820insAGA (GATAD1)
XR_927497.1:n.1036-664_1036-663insAGA (GATAD1)
XR_927498.1:n.1124-1821_1124-1820insAGA (GATAD1)
XR_927500.1:n.1033-1821_1033-1820insAGA (GATAD1)
XR_927502.1:n.1033-664_1033-663insAGA (GATAD1)
XR_927503.1:n.967-1821_967-1820insAGA (GATAD1)
XM_017012319.2:c.1888_1889insTCT (PEX1)	XP_016867808.1:p.Glu630ValfsTer2
XR_001744808.2:n.2659_2660insTCT (PEX1)
XR_001744842.2:n.2281-1821_2281-1820insAGA (GATAD1)
XR_001744843.2:n.2212-1821_2212-1820insAGA (GATAD1)
XR_002956472.1:n.2281-664_2281-663insAGA (GATAD1)
XR_002956473.1:n.2369-1821_2369-1820insAGA (GATAD1)
XR_002956474.1:n.2286-1821_2286-1820insAGA (GATAD1)
XR_242246.5:n.3679_3680insTCT (PEX1)
XR_927494.3:n.1063-1821_1063-1820insAGA (GATAD1)
XR_927500.3:n.1060-1821_1060-1820insAGA (GATAD1)
XR_927503.3:n.994-1821_994-1820insAGA (GATAD1)
NM_000466.3:c.3637_3638insTCT (PEX1) MANE Select	NP_000457.1:p.Glu1213ValfsTer2
NM_001282677.2:c.3466_3467insTCT (PEX1)	NP_001269606.1:p.Glu1156ValfsTer2
NM_001282678.2:c.3013_3014insTCT (PEX1)	NP_001269607.1:p.Glu1005ValfsTer2