Canonical Allele Identifier: CA2776945406

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489534_92489535insA , CM000669.2:g.92489534_92489535insA	GRCh38
NC_000007.13:g.92118848_92118849insA , CM000669.1:g.92118848_92118849insA	GRCh37
NC_000007.12:g.91956784_91956785insA	NCBI36
NG_008341.1:g.43997_43998insT
NG_008341.2:g.43997_43998insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3637-112_3637-111insT (PEX1) MANE Select	ENSP00000248633.4:n.3637-112_3637-111insT
ENST00000248633.8:c.3637-112_3637-111insT (PEX1)	ENSP00000248633.4:n.3637-112_3637-111insT
ENST00000428214.5:c.3466-112_3466-111insT (PEX1)	ENSP00000394413.1:n.3466-112_3466-111insT
ENST00000438045.5:c.2671-112_2671-111insT (PEX1)	ENSP00000410438.1:n.2671-112_2671-111insT
ENST00000469417.1:n.534-112_534-111insT (PEX1)
ENST00000477342.1:n.260_261insT (PEX1)
ENST00000484913.5:n.3676-112_3676-111insT (PEX1)
ENST00000496420.5:n.4687-112_4687-111insT (PEX1)
NM_000466.2:c.3637-112_3637-111insT (PEX1)	NP_000457.1:n.3637-112_3637-111insT
NM_001282677.1:c.3466-112_3466-111insT (PEX1)	NP_001269606.1:n.3466-112_3466-111insT
NM_001282678.1:c.3013-112_3013-111insT (PEX1)	NP_001269607.1:n.3013-112_3013-111insT
XM_005250433.3:c.1888-112_1888-111insT (PEX1)	XP_005250490.1:n.1888-112_1888-111insT
XR_242246.3:n.3728-112_3728-111insT (PEX1)
XR_927494.1:n.1036-1709_1036-1708insA (GATAD1)
XR_927495.1:n.1036-552_1036-551insA (GATAD1)
XR_927496.1:n.1041-1709_1041-1708insA (GATAD1)
XR_927497.1:n.1036-552_1036-551insA (GATAD1)
XR_927498.1:n.1124-1709_1124-1708insA (GATAD1)
XR_927500.1:n.1033-1709_1033-1708insA (GATAD1)
XR_927502.1:n.1033-552_1033-551insA (GATAD1)
XR_927503.1:n.967-1709_967-1708insA (GATAD1)
XM_017012319.2:c.1888-112_1888-111insT (PEX1)	XP_016867808.1:n.1888-112_1888-111insT
XR_001744808.2:n.2659-112_2659-111insT (PEX1)
XR_001744842.2:n.2281-1709_2281-1708insA (GATAD1)
XR_001744843.2:n.2212-1709_2212-1708insA (GATAD1)
XR_002956472.1:n.2281-552_2281-551insA (GATAD1)
XR_002956473.1:n.2369-1709_2369-1708insA (GATAD1)
XR_002956474.1:n.2286-1709_2286-1708insA (GATAD1)
XR_242246.5:n.3679-112_3679-111insT (PEX1)
XR_927494.3:n.1063-1709_1063-1708insA (GATAD1)
XR_927500.3:n.1060-1709_1060-1708insA (GATAD1)
XR_927503.3:n.994-1709_994-1708insA (GATAD1)
NM_000466.3:c.3637-112_3637-111insT (PEX1) MANE Select	NP_000457.1:n.3637-112_3637-111insT
NM_001282677.2:c.3466-112_3466-111insT (PEX1)	NP_001269606.1:n.3466-112_3466-111insT
NM_001282678.2:c.3013-112_3013-111insT (PEX1)	NP_001269607.1:n.3013-112_3013-111insT