Canonical Allele Identifier: CA2776945430

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489563_92489564insACT , CM000669.2:g.92489563_92489564insACT	GRCh38
NC_000007.13:g.92118877_92118878insACT , CM000669.1:g.92118877_92118878insACT	GRCh37
NC_000007.12:g.91956813_91956814insACT	NCBI36
NG_008341.1:g.43968_43969insAGT
NG_008341.2:g.43968_43969insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-141_3637-140insAGT (PEX1) MANE Select	ENSP00000248633.4:n.3637-141_3637-140insAGT
ENST00000248633.8:c.3637-141_3637-140insAGT (PEX1)	ENSP00000248633.4:n.3637-141_3637-140insAGT
ENST00000428214.5:c.3466-141_3466-140insAGT (PEX1)	ENSP00000394413.1:n.3466-141_3466-140insAGT
ENST00000438045.5:c.2671-141_2671-140insAGT (PEX1)	ENSP00000410438.1:n.2671-141_2671-140insAGT
ENST00000469417.1:n.534-141_534-140insAGT (PEX1)
ENST00000477342.1:n.231_232insAGT (PEX1)
ENST00000484913.5:n.3676-141_3676-140insAGT (PEX1)
ENST00000496420.5:n.4687-141_4687-140insAGT (PEX1)
NM_000466.2:c.3637-141_3637-140insAGT (PEX1)	NP_000457.1:n.3637-141_3637-140insAGT
NM_001282677.1:c.3466-141_3466-140insAGT (PEX1)	NP_001269606.1:n.3466-141_3466-140insAGT
NM_001282678.1:c.3013-141_3013-140insAGT (PEX1)	NP_001269607.1:n.3013-141_3013-140insAGT
XM_005250433.3:c.1888-141_1888-140insAGT (PEX1)	XP_005250490.1:n.1888-141_1888-140insAGT
XR_242246.3:n.3728-141_3728-140insAGT (PEX1)
XR_927494.1:n.1036-1680_1036-1679insACT (GATAD1)
XR_927495.1:n.1036-523_1036-522insACT (GATAD1)
XR_927496.1:n.1041-1680_1041-1679insACT (GATAD1)
XR_927497.1:n.1036-523_1036-522insACT (GATAD1)
XR_927498.1:n.1124-1680_1124-1679insACT (GATAD1)
XR_927500.1:n.1033-1680_1033-1679insACT (GATAD1)
XR_927502.1:n.1033-523_1033-522insACT (GATAD1)
XR_927503.1:n.967-1680_967-1679insACT (GATAD1)
XM_017012319.2:c.1888-141_1888-140insAGT (PEX1)	XP_016867808.1:n.1888-141_1888-140insAGT
XR_001744808.2:n.2659-141_2659-140insAGT (PEX1)
XR_001744842.2:n.2281-1680_2281-1679insACT (GATAD1)
XR_001744843.2:n.2212-1680_2212-1679insACT (GATAD1)
XR_002956472.1:n.2281-523_2281-522insACT (GATAD1)
XR_002956473.1:n.2369-1680_2369-1679insACT (GATAD1)
XR_002956474.1:n.2286-1680_2286-1679insACT (GATAD1)
XR_242246.5:n.3679-141_3679-140insAGT (PEX1)
XR_927494.3:n.1063-1680_1063-1679insACT (GATAD1)
XR_927500.3:n.1060-1680_1060-1679insACT (GATAD1)
XR_927503.3:n.994-1680_994-1679insACT (GATAD1)
NM_000466.3:c.3637-141_3637-140insAGT (PEX1) MANE Select	NP_000457.1:n.3637-141_3637-140insAGT
NM_001282677.2:c.3466-141_3466-140insAGT (PEX1)	NP_001269606.1:n.3466-141_3466-140insAGT
NM_001282678.2:c.3013-141_3013-140insAGT (PEX1)	NP_001269607.1:n.3013-141_3013-140insAGT