Canonical Allele Identifier: CA2776945347

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489479_92489482del , CM000669.2:g.92489479_92489482del	GRCh38
NC_000007.13:g.92118793_92118796del , CM000669.1:g.92118793_92118796del	GRCh37
NC_000007.12:g.91956729_91956732del	NCBI36
NG_008341.1:g.44050_44053del
NG_008341.2:g.44050_44053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-59_3637-56del (PEX1) MANE Select	ENSP00000248633.4:n.3637-59_3637-56del
ENST00000248633.8:c.3637-59_3637-56del (PEX1)	ENSP00000248633.4:n.3637-59_3637-56del
ENST00000428214.5:c.3466-59_3466-56del (PEX1)	ENSP00000394413.1:n.3466-59_3466-56del
ENST00000438045.5:c.2671-59_2671-56del (PEX1)	ENSP00000410438.1:n.2671-59_2671-56del
ENST00000469417.1:n.534-59_534-56del (PEX1)
ENST00000477342.1:n.313_316del (PEX1)
ENST00000484913.5:n.3676-59_3676-56del (PEX1)
ENST00000496420.5:n.4687-59_4687-56del (PEX1)
NM_000466.2:c.3637-59_3637-56del (PEX1)	NP_000457.1:n.3637-59_3637-56del
NM_001282677.1:c.3466-59_3466-56del (PEX1)	NP_001269606.1:n.3466-59_3466-56del
NM_001282678.1:c.3013-59_3013-56del (PEX1)	NP_001269607.1:n.3013-59_3013-56del
XM_005250433.3:c.1888-59_1888-56del (PEX1)	XP_005250490.1:n.1888-59_1888-56del
XR_242246.3:n.3728-59_3728-56del (PEX1)
XR_927494.1:n.1036-1764_1036-1761del (GATAD1)
XR_927495.1:n.1036-607_1036-604del (GATAD1)
XR_927496.1:n.1041-1764_1041-1761del (GATAD1)
XR_927497.1:n.1036-607_1036-604del (GATAD1)
XR_927498.1:n.1124-1764_1124-1761del (GATAD1)
XR_927500.1:n.1033-1764_1033-1761del (GATAD1)
XR_927502.1:n.1033-607_1033-604del (GATAD1)
XR_927503.1:n.967-1764_967-1761del (GATAD1)
XM_017012319.2:c.1888-59_1888-56del (PEX1)	XP_016867808.1:n.1888-59_1888-56del
XR_001744808.2:n.2659-59_2659-56del (PEX1)
XR_001744842.2:n.2281-1764_2281-1761del (GATAD1)
XR_001744843.2:n.2212-1764_2212-1761del (GATAD1)
XR_002956472.1:n.2281-607_2281-604del (GATAD1)
XR_002956473.1:n.2369-1764_2369-1761del (GATAD1)
XR_002956474.1:n.2286-1764_2286-1761del (GATAD1)
XR_242246.5:n.3679-59_3679-56del (PEX1)
XR_927494.3:n.1063-1764_1063-1761del (GATAD1)
XR_927500.3:n.1060-1764_1060-1761del (GATAD1)
XR_927503.3:n.994-1764_994-1761del (GATAD1)
NM_000466.3:c.3637-59_3637-56del (PEX1) MANE Select	NP_000457.1:n.3637-59_3637-56del
NM_001282677.2:c.3466-59_3466-56del (PEX1)	NP_001269606.1:n.3466-59_3466-56del
NM_001282678.2:c.3013-59_3013-56del (PEX1)	NP_001269607.1:n.3013-59_3013-56del