Canonical Allele Identifier: CA2776945427

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489561_92489562del , CM000669.2:g.92489561_92489562del	GRCh38
NC_000007.13:g.92118875_92118876del , CM000669.1:g.92118875_92118876del	GRCh37
NC_000007.12:g.91956811_91956812del	NCBI36
NG_008341.1:g.43971_43972del
NG_008341.2:g.43971_43972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-138_3637-137del (PEX1) MANE Select	ENSP00000248633.4:n.3637-138_3637-137del
ENST00000248633.8:c.3637-138_3637-137del (PEX1)	ENSP00000248633.4:n.3637-138_3637-137del
ENST00000428214.5:c.3466-138_3466-137del (PEX1)	ENSP00000394413.1:n.3466-138_3466-137del
ENST00000438045.5:c.2671-138_2671-137del (PEX1)	ENSP00000410438.1:n.2671-138_2671-137del
ENST00000469417.1:n.534-138_534-137del (PEX1)
ENST00000477342.1:n.234_235del (PEX1)
ENST00000484913.5:n.3676-138_3676-137del (PEX1)
ENST00000496420.5:n.4687-138_4687-137del (PEX1)
NM_000466.2:c.3637-138_3637-137del (PEX1)	NP_000457.1:n.3637-138_3637-137del
NM_001282677.1:c.3466-138_3466-137del (PEX1)	NP_001269606.1:n.3466-138_3466-137del
NM_001282678.1:c.3013-138_3013-137del (PEX1)	NP_001269607.1:n.3013-138_3013-137del
XM_005250433.3:c.1888-138_1888-137del (PEX1)	XP_005250490.1:n.1888-138_1888-137del
XR_242246.3:n.3728-138_3728-137del (PEX1)
XR_927494.1:n.1036-1682_1036-1681del (GATAD1)
XR_927495.1:n.1036-525_1036-524del (GATAD1)
XR_927496.1:n.1041-1682_1041-1681del (GATAD1)
XR_927497.1:n.1036-525_1036-524del (GATAD1)
XR_927498.1:n.1124-1682_1124-1681del (GATAD1)
XR_927500.1:n.1033-1682_1033-1681del (GATAD1)
XR_927502.1:n.1033-525_1033-524del (GATAD1)
XR_927503.1:n.967-1682_967-1681del (GATAD1)
XM_017012319.2:c.1888-138_1888-137del (PEX1)	XP_016867808.1:n.1888-138_1888-137del
XR_001744808.2:n.2659-138_2659-137del (PEX1)
XR_001744842.2:n.2281-1682_2281-1681del (GATAD1)
XR_001744843.2:n.2212-1682_2212-1681del (GATAD1)
XR_002956472.1:n.2281-525_2281-524del (GATAD1)
XR_002956473.1:n.2369-1682_2369-1681del (GATAD1)
XR_002956474.1:n.2286-1682_2286-1681del (GATAD1)
XR_242246.5:n.3679-138_3679-137del (PEX1)
XR_927494.3:n.1063-1682_1063-1681del (GATAD1)
XR_927500.3:n.1060-1682_1060-1681del (GATAD1)
XR_927503.3:n.994-1682_994-1681del (GATAD1)
NM_000466.3:c.3637-138_3637-137del (PEX1) MANE Select	NP_000457.1:n.3637-138_3637-137del
NM_001282677.2:c.3466-138_3466-137del (PEX1)	NP_001269606.1:n.3466-138_3466-137del
NM_001282678.2:c.3013-138_3013-137del (PEX1)	NP_001269607.1:n.3013-138_3013-137del