Canonical Allele Identifier: CA2776945360

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489493_92489494del , CM000669.2:g.92489493_92489494del	GRCh38
NC_000007.13:g.92118807_92118808del , CM000669.1:g.92118807_92118808del	GRCh37
NC_000007.12:g.91956743_91956744del	NCBI36
NG_008341.1:g.44038_44039del
NG_008341.2:g.44038_44039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-71_3637-70del (PEX1) MANE Select	ENSP00000248633.4:n.3637-71_3637-70del
ENST00000248633.8:c.3637-71_3637-70del (PEX1)	ENSP00000248633.4:n.3637-71_3637-70del
ENST00000428214.5:c.3466-71_3466-70del (PEX1)	ENSP00000394413.1:n.3466-71_3466-70del
ENST00000438045.5:c.2671-71_2671-70del (PEX1)	ENSP00000410438.1:n.2671-71_2671-70del
ENST00000469417.1:n.534-71_534-70del (PEX1)
ENST00000477342.1:n.301_302del (PEX1)
ENST00000484913.5:n.3676-71_3676-70del (PEX1)
ENST00000496420.5:n.4687-71_4687-70del (PEX1)
NM_000466.2:c.3637-71_3637-70del (PEX1)	NP_000457.1:n.3637-71_3637-70del
NM_001282677.1:c.3466-71_3466-70del (PEX1)	NP_001269606.1:n.3466-71_3466-70del
NM_001282678.1:c.3013-71_3013-70del (PEX1)	NP_001269607.1:n.3013-71_3013-70del
XM_005250433.3:c.1888-71_1888-70del (PEX1)	XP_005250490.1:n.1888-71_1888-70del
XR_242246.3:n.3728-71_3728-70del (PEX1)
XR_927494.1:n.1036-1750_1036-1749del (GATAD1)
XR_927495.1:n.1036-593_1036-592del (GATAD1)
XR_927496.1:n.1041-1750_1041-1749del (GATAD1)
XR_927497.1:n.1036-593_1036-592del (GATAD1)
XR_927498.1:n.1124-1750_1124-1749del (GATAD1)
XR_927500.1:n.1033-1750_1033-1749del (GATAD1)
XR_927502.1:n.1033-593_1033-592del (GATAD1)
XR_927503.1:n.967-1750_967-1749del (GATAD1)
XM_017012319.2:c.1888-71_1888-70del (PEX1)	XP_016867808.1:n.1888-71_1888-70del
XR_001744808.2:n.2659-71_2659-70del (PEX1)
XR_001744842.2:n.2281-1750_2281-1749del (GATAD1)
XR_001744843.2:n.2212-1750_2212-1749del (GATAD1)
XR_002956472.1:n.2281-593_2281-592del (GATAD1)
XR_002956473.1:n.2369-1750_2369-1749del (GATAD1)
XR_002956474.1:n.2286-1750_2286-1749del (GATAD1)
XR_242246.5:n.3679-71_3679-70del (PEX1)
XR_927494.3:n.1063-1750_1063-1749del (GATAD1)
XR_927500.3:n.1060-1750_1060-1749del (GATAD1)
XR_927503.3:n.994-1750_994-1749del (GATAD1)
NM_000466.3:c.3637-71_3637-70del (PEX1) MANE Select	NP_000457.1:n.3637-71_3637-70del
NM_001282677.2:c.3466-71_3466-70del (PEX1)	NP_001269606.1:n.3466-71_3466-70del
NM_001282678.2:c.3013-71_3013-70del (PEX1)	NP_001269607.1:n.3013-71_3013-70del