Canonical Allele Identifier: CA2776945329

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489440_92489441insCCAAACACACCCAACAC , CM000669.2:g.92489440_92489441insCCAAACACACCCAACAC	GRCh38
NC_000007.13:g.92118754_92118755insCCAAACACACCCAACAC , CM000669.1:g.92118754_92118755insCCAAACACACCCAACAC	GRCh37
NC_000007.12:g.91956690_91956691insCCAAACACACCCAACAC	NCBI36
NG_008341.1:g.44091_44092insGTGTTGGGTGTGTTTGG
NG_008341.2:g.44091_44092insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-18_3637-17insGTGTTGGGTGTGTTTGG (PEX1) MANE Select	ENSP00000248633.4:n.3637-18_3637-17insGTGTTGGGTGTGTTTGG
ENST00000248633.8:c.3637-18_3637-17insGTGTTGGGTGTGTTTGG (PEX1)	ENSP00000248633.4:n.3637-18_3637-17insGTGTTGGGTGTGTTTGG
ENST00000428214.5:c.3466-18_3466-17insGTGTTGGGTGTGTTTGG (PEX1)	ENSP00000394413.1:n.3466-18_3466-17insGTGTTGGGTGTGTTTGG
ENST00000438045.5:c.2671-18_2671-17insGTGTTGGGTGTGTTTGG (PEX1)	ENSP00000410438.1:n.2671-18_2671-17insGTGTTGGGTGTGTTTGG
ENST00000469417.1:n.534-18_534-17insGTGTTGGGTGTGTTTGG (PEX1)
ENST00000477342.1:n.354_355insGTGTTGGGTGTGTTTGG (PEX1)
ENST00000484913.5:n.3676-18_3676-17insGTGTTGGGTGTGTTTGG (PEX1)
ENST00000496420.5:n.4687-18_4687-17insGTGTTGGGTGTGTTTGG (PEX1)
NM_000466.2:c.3637-18_3637-17insGTGTTGGGTGTGTTTGG (PEX1)	NP_000457.1:n.3637-18_3637-17insGTGTTGGGTGTGTTTGG
NM_001282677.1:c.3466-18_3466-17insGTGTTGGGTGTGTTTGG (PEX1)	NP_001269606.1:n.3466-18_3466-17insGTGTTGGGTGTGTTTGG
NM_001282678.1:c.3013-18_3013-17insGTGTTGGGTGTGTTTGG (PEX1)	NP_001269607.1:n.3013-18_3013-17insGTGTTGGGTGTGTTTGG
XM_005250433.3:c.1888-18_1888-17insGTGTTGGGTGTGTTTGG (PEX1)	XP_005250490.1:n.1888-18_1888-17insGTGTTGGGTGTGTTTGG
XR_242246.3:n.3728-18_3728-17insGTGTTGGGTGTGTTTGG (PEX1)
XR_927494.1:n.1036-1803_1036-1802insCCAAACACACCCAACAC (GATAD1)
XR_927495.1:n.1036-646_1036-645insCCAAACACACCCAACAC (GATAD1)
XR_927496.1:n.1041-1803_1041-1802insCCAAACACACCCAACAC (GATAD1)
XR_927497.1:n.1036-646_1036-645insCCAAACACACCCAACAC (GATAD1)
XR_927498.1:n.1124-1803_1124-1802insCCAAACACACCCAACAC (GATAD1)
XR_927500.1:n.1033-1803_1033-1802insCCAAACACACCCAACAC (GATAD1)
XR_927502.1:n.1033-646_1033-645insCCAAACACACCCAACAC (GATAD1)
XR_927503.1:n.967-1803_967-1802insCCAAACACACCCAACAC (GATAD1)
XM_017012319.2:c.1888-18_1888-17insGTGTTGGGTGTGTTTGG (PEX1)	XP_016867808.1:n.1888-18_1888-17insGTGTTGGGTGTGTTTGG
XR_001744808.2:n.2659-18_2659-17insGTGTTGGGTGTGTTTGG (PEX1)
XR_001744842.2:n.2281-1803_2281-1802insCCAAACACACCCAACAC (GATAD1)
XR_001744843.2:n.2212-1803_2212-1802insCCAAACACACCCAACAC (GATAD1)
XR_002956472.1:n.2281-646_2281-645insCCAAACACACCCAACAC (GATAD1)
XR_002956473.1:n.2369-1803_2369-1802insCCAAACACACCCAACAC (GATAD1)
XR_002956474.1:n.2286-1803_2286-1802insCCAAACACACCCAACAC (GATAD1)
XR_242246.5:n.3679-18_3679-17insGTGTTGGGTGTGTTTGG (PEX1)
XR_927494.3:n.1063-1803_1063-1802insCCAAACACACCCAACAC (GATAD1)
XR_927500.3:n.1060-1803_1060-1802insCCAAACACACCCAACAC (GATAD1)
XR_927503.3:n.994-1803_994-1802insCCAAACACACCCAACAC (GATAD1)
NM_000466.3:c.3637-18_3637-17insGTGTTGGGTGTGTTTGG (PEX1) MANE Select	NP_000457.1:n.3637-18_3637-17insGTGTTGGGTGTGTTTGG
NM_001282677.2:c.3466-18_3466-17insGTGTTGGGTGTGTTTGG (PEX1)	NP_001269606.1:n.3466-18_3466-17insGTGTTGGGTGTGTTTGG
NM_001282678.2:c.3013-18_3013-17insGTGTTGGGTGTGTTTGG (PEX1)	NP_001269607.1:n.3013-18_3013-17insGTGTTGGGTGTGTTTGG