Canonical Allele Identifier: CA2776945403

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489533_92489534insA , CM000669.2:g.92489533_92489534insA	GRCh38
NC_000007.13:g.92118847_92118848insA , CM000669.1:g.92118847_92118848insA	GRCh37
NC_000007.12:g.91956783_91956784insA	NCBI36
NG_008341.1:g.43998_43999insT
NG_008341.2:g.43998_43999insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-111_3637-110insT (PEX1) MANE Select	ENSP00000248633.4:n.3637-111_3637-110insT
ENST00000248633.8:c.3637-111_3637-110insT (PEX1)	ENSP00000248633.4:n.3637-111_3637-110insT
ENST00000428214.5:c.3466-111_3466-110insT (PEX1)	ENSP00000394413.1:n.3466-111_3466-110insT
ENST00000438045.5:c.2671-111_2671-110insT (PEX1)	ENSP00000410438.1:n.2671-111_2671-110insT
ENST00000469417.1:n.534-111_534-110insT (PEX1)
ENST00000477342.1:n.261_262insT (PEX1)
ENST00000484913.5:n.3676-111_3676-110insT (PEX1)
ENST00000496420.5:n.4687-111_4687-110insT (PEX1)
NM_000466.2:c.3637-111_3637-110insT (PEX1)	NP_000457.1:n.3637-111_3637-110insT
NM_001282677.1:c.3466-111_3466-110insT (PEX1)	NP_001269606.1:n.3466-111_3466-110insT
NM_001282678.1:c.3013-111_3013-110insT (PEX1)	NP_001269607.1:n.3013-111_3013-110insT
XM_005250433.3:c.1888-111_1888-110insT (PEX1)	XP_005250490.1:n.1888-111_1888-110insT
XR_242246.3:n.3728-111_3728-110insT (PEX1)
XR_927494.1:n.1036-1710_1036-1709insA (GATAD1)
XR_927495.1:n.1036-553_1036-552insA (GATAD1)
XR_927496.1:n.1041-1710_1041-1709insA (GATAD1)
XR_927497.1:n.1036-553_1036-552insA (GATAD1)
XR_927498.1:n.1124-1710_1124-1709insA (GATAD1)
XR_927500.1:n.1033-1710_1033-1709insA (GATAD1)
XR_927502.1:n.1033-553_1033-552insA (GATAD1)
XR_927503.1:n.967-1710_967-1709insA (GATAD1)
XM_017012319.2:c.1888-111_1888-110insT (PEX1)	XP_016867808.1:n.1888-111_1888-110insT
XR_001744808.2:n.2659-111_2659-110insT (PEX1)
XR_001744842.2:n.2281-1710_2281-1709insA (GATAD1)
XR_001744843.2:n.2212-1710_2212-1709insA (GATAD1)
XR_002956472.1:n.2281-553_2281-552insA (GATAD1)
XR_002956473.1:n.2369-1710_2369-1709insA (GATAD1)
XR_002956474.1:n.2286-1710_2286-1709insA (GATAD1)
XR_242246.5:n.3679-111_3679-110insT (PEX1)
XR_927494.3:n.1063-1710_1063-1709insA (GATAD1)
XR_927500.3:n.1060-1710_1060-1709insA (GATAD1)
XR_927503.3:n.994-1710_994-1709insA (GATAD1)
NM_000466.3:c.3637-111_3637-110insT (PEX1) MANE Select	NP_000457.1:n.3637-111_3637-110insT
NM_001282677.2:c.3466-111_3466-110insT (PEX1)	NP_001269606.1:n.3466-111_3466-110insT
NM_001282678.2:c.3013-111_3013-110insT (PEX1)	NP_001269607.1:n.3013-111_3013-110insT