Canonical Allele Identifier: CA2776945377

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489505_92489506del , CM000669.2:g.92489505_92489506del	GRCh38
NC_000007.13:g.92118819_92118820del , CM000669.1:g.92118819_92118820del	GRCh37
NC_000007.12:g.91956755_91956756del	NCBI36
NG_008341.1:g.44027_44028del
NG_008341.2:g.44027_44028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-82_3637-81del (PEX1) MANE Select	ENSP00000248633.4:n.3637-82_3637-81del
ENST00000248633.8:c.3637-82_3637-81del (PEX1)	ENSP00000248633.4:n.3637-82_3637-81del
ENST00000428214.5:c.3466-82_3466-81del (PEX1)	ENSP00000394413.1:n.3466-82_3466-81del
ENST00000438045.5:c.2671-82_2671-81del (PEX1)	ENSP00000410438.1:n.2671-82_2671-81del
ENST00000469417.1:n.534-82_534-81del (PEX1)
ENST00000477342.1:n.290_291del (PEX1)
ENST00000484913.5:n.3676-82_3676-81del (PEX1)
ENST00000496420.5:n.4687-82_4687-81del (PEX1)
NM_000466.2:c.3637-82_3637-81del (PEX1)	NP_000457.1:n.3637-82_3637-81del
NM_001282677.1:c.3466-82_3466-81del (PEX1)	NP_001269606.1:n.3466-82_3466-81del
NM_001282678.1:c.3013-82_3013-81del (PEX1)	NP_001269607.1:n.3013-82_3013-81del
XM_005250433.3:c.1888-82_1888-81del (PEX1)	XP_005250490.1:n.1888-82_1888-81del
XR_242246.3:n.3728-82_3728-81del (PEX1)
XR_927494.1:n.1036-1738_1036-1737del (GATAD1)
XR_927495.1:n.1036-581_1036-580del (GATAD1)
XR_927496.1:n.1041-1738_1041-1737del (GATAD1)
XR_927497.1:n.1036-581_1036-580del (GATAD1)
XR_927498.1:n.1124-1738_1124-1737del (GATAD1)
XR_927500.1:n.1033-1738_1033-1737del (GATAD1)
XR_927502.1:n.1033-581_1033-580del (GATAD1)
XR_927503.1:n.967-1738_967-1737del (GATAD1)
XM_017012319.2:c.1888-82_1888-81del (PEX1)	XP_016867808.1:n.1888-82_1888-81del
XR_001744808.2:n.2659-82_2659-81del (PEX1)
XR_001744842.2:n.2281-1738_2281-1737del (GATAD1)
XR_001744843.2:n.2212-1738_2212-1737del (GATAD1)
XR_002956472.1:n.2281-581_2281-580del (GATAD1)
XR_002956473.1:n.2369-1738_2369-1737del (GATAD1)
XR_002956474.1:n.2286-1738_2286-1737del (GATAD1)
XR_242246.5:n.3679-82_3679-81del (PEX1)
XR_927494.3:n.1063-1738_1063-1737del (GATAD1)
XR_927500.3:n.1060-1738_1060-1737del (GATAD1)
XR_927503.3:n.994-1738_994-1737del (GATAD1)
NM_000466.3:c.3637-82_3637-81del (PEX1) MANE Select	NP_000457.1:n.3637-82_3637-81del
NM_001282677.2:c.3466-82_3466-81del (PEX1)	NP_001269606.1:n.3466-82_3466-81del
NM_001282678.2:c.3013-82_3013-81del (PEX1)	NP_001269607.1:n.3013-82_3013-81del