Canonical Allele Identifier: CA2776945418

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489545_92489551del , CM000669.2:g.92489545_92489551del	GRCh38
NC_000007.13:g.92118859_92118865del , CM000669.1:g.92118859_92118865del	GRCh37
NC_000007.12:g.91956795_91956801del	NCBI36
NG_008341.1:g.43981_43987del
NG_008341.2:g.43981_43987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-128_3637-122del (PEX1) MANE Select	ENSP00000248633.4:n.3637-128_3637-122del
ENST00000248633.8:c.3637-128_3637-122del (PEX1)	ENSP00000248633.4:n.3637-128_3637-122del
ENST00000428214.5:c.3466-128_3466-122del (PEX1)	ENSP00000394413.1:n.3466-128_3466-122del
ENST00000438045.5:c.2671-128_2671-122del (PEX1)	ENSP00000410438.1:n.2671-128_2671-122del
ENST00000469417.1:n.534-128_534-122del (PEX1)
ENST00000477342.1:n.244_250del (PEX1)
ENST00000484913.5:n.3676-128_3676-122del (PEX1)
ENST00000496420.5:n.4687-128_4687-122del (PEX1)
NM_000466.2:c.3637-128_3637-122del (PEX1)	NP_000457.1:n.3637-128_3637-122del
NM_001282677.1:c.3466-128_3466-122del (PEX1)	NP_001269606.1:n.3466-128_3466-122del
NM_001282678.1:c.3013-128_3013-122del (PEX1)	NP_001269607.1:n.3013-128_3013-122del
XM_005250433.3:c.1888-128_1888-122del (PEX1)	XP_005250490.1:n.1888-128_1888-122del
XR_242246.3:n.3728-128_3728-122del (PEX1)
XR_927494.1:n.1036-1698_1036-1692del (GATAD1)
XR_927495.1:n.1036-541_1036-535del (GATAD1)
XR_927496.1:n.1041-1698_1041-1692del (GATAD1)
XR_927497.1:n.1036-541_1036-535del (GATAD1)
XR_927498.1:n.1124-1698_1124-1692del (GATAD1)
XR_927500.1:n.1033-1698_1033-1692del (GATAD1)
XR_927502.1:n.1033-541_1033-535del (GATAD1)
XR_927503.1:n.967-1698_967-1692del (GATAD1)
XM_017012319.2:c.1888-128_1888-122del (PEX1)	XP_016867808.1:n.1888-128_1888-122del
XR_001744808.2:n.2659-128_2659-122del (PEX1)
XR_001744842.2:n.2281-1698_2281-1692del (GATAD1)
XR_001744843.2:n.2212-1698_2212-1692del (GATAD1)
XR_002956472.1:n.2281-541_2281-535del (GATAD1)
XR_002956473.1:n.2369-1698_2369-1692del (GATAD1)
XR_002956474.1:n.2286-1698_2286-1692del (GATAD1)
XR_242246.5:n.3679-128_3679-122del (PEX1)
XR_927494.3:n.1063-1698_1063-1692del (GATAD1)
XR_927500.3:n.1060-1698_1060-1692del (GATAD1)
XR_927503.3:n.994-1698_994-1692del (GATAD1)
NM_000466.3:c.3637-128_3637-122del (PEX1) MANE Select	NP_000457.1:n.3637-128_3637-122del
NM_001282677.2:c.3466-128_3466-122del (PEX1)	NP_001269606.1:n.3466-128_3466-122del
NM_001282678.2:c.3013-128_3013-122del (PEX1)	NP_001269607.1:n.3013-128_3013-122del