Canonical Allele Identifier: CA2776945353

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489483_92489484insCAC , CM000669.2:g.92489483_92489484insCAC	GRCh38
NC_000007.13:g.92118797_92118798insCAC , CM000669.1:g.92118797_92118798insCAC	GRCh37
NC_000007.12:g.91956733_91956734insCAC	NCBI36
NG_008341.1:g.44048_44049insGTG
NG_008341.2:g.44048_44049insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-61_3637-60insGTG (PEX1) MANE Select	ENSP00000248633.4:n.3637-61_3637-60insGTG
ENST00000248633.8:c.3637-61_3637-60insGTG (PEX1)	ENSP00000248633.4:n.3637-61_3637-60insGTG
ENST00000428214.5:c.3466-61_3466-60insGTG (PEX1)	ENSP00000394413.1:n.3466-61_3466-60insGTG
ENST00000438045.5:c.2671-61_2671-60insGTG (PEX1)	ENSP00000410438.1:n.2671-61_2671-60insGTG
ENST00000469417.1:n.534-61_534-60insGTG (PEX1)
ENST00000477342.1:n.311_312insGTG (PEX1)
ENST00000484913.5:n.3676-61_3676-60insGTG (PEX1)
ENST00000496420.5:n.4687-61_4687-60insGTG (PEX1)
NM_000466.2:c.3637-61_3637-60insGTG (PEX1)	NP_000457.1:n.3637-61_3637-60insGTG
NM_001282677.1:c.3466-61_3466-60insGTG (PEX1)	NP_001269606.1:n.3466-61_3466-60insGTG
NM_001282678.1:c.3013-61_3013-60insGTG (PEX1)	NP_001269607.1:n.3013-61_3013-60insGTG
XM_005250433.3:c.1888-61_1888-60insGTG (PEX1)	XP_005250490.1:n.1888-61_1888-60insGTG
XR_242246.3:n.3728-61_3728-60insGTG (PEX1)
XR_927494.1:n.1036-1760_1036-1759insCAC (GATAD1)
XR_927495.1:n.1036-603_1036-602insCAC (GATAD1)
XR_927496.1:n.1041-1760_1041-1759insCAC (GATAD1)
XR_927497.1:n.1036-603_1036-602insCAC (GATAD1)
XR_927498.1:n.1124-1760_1124-1759insCAC (GATAD1)
XR_927500.1:n.1033-1760_1033-1759insCAC (GATAD1)
XR_927502.1:n.1033-603_1033-602insCAC (GATAD1)
XR_927503.1:n.967-1760_967-1759insCAC (GATAD1)
XM_017012319.2:c.1888-61_1888-60insGTG (PEX1)	XP_016867808.1:n.1888-61_1888-60insGTG
XR_001744808.2:n.2659-61_2659-60insGTG (PEX1)
XR_001744842.2:n.2281-1760_2281-1759insCAC (GATAD1)
XR_001744843.2:n.2212-1760_2212-1759insCAC (GATAD1)
XR_002956472.1:n.2281-603_2281-602insCAC (GATAD1)
XR_002956473.1:n.2369-1760_2369-1759insCAC (GATAD1)
XR_002956474.1:n.2286-1760_2286-1759insCAC (GATAD1)
XR_242246.5:n.3679-61_3679-60insGTG (PEX1)
XR_927494.3:n.1063-1760_1063-1759insCAC (GATAD1)
XR_927500.3:n.1060-1760_1060-1759insCAC (GATAD1)
XR_927503.3:n.994-1760_994-1759insCAC (GATAD1)
NM_000466.3:c.3637-61_3637-60insGTG (PEX1) MANE Select	NP_000457.1:n.3637-61_3637-60insGTG
NM_001282677.2:c.3466-61_3466-60insGTG (PEX1)	NP_001269606.1:n.3466-61_3466-60insGTG
NM_001282678.2:c.3013-61_3013-60insGTG (PEX1)	NP_001269607.1:n.3013-61_3013-60insGTG