Canonical Allele Identifier: CA2776945439

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489607_92489615del , CM000669.2:g.92489607_92489615del	GRCh38
NC_000007.13:g.92118921_92118929del , CM000669.1:g.92118921_92118929del	GRCh37
NC_000007.12:g.91956857_91956865del	NCBI36
NG_008341.1:g.43917_43925del
NG_008341.2:g.43917_43925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3636+99_3636+107del (PEX1) MANE Select	ENSP00000248633.4:n.3636+99_3636+107del
ENST00000248633.8:c.3636+99_3636+107del (PEX1)	ENSP00000248633.4:n.3636+99_3636+107del
ENST00000428214.5:c.3465+99_3465+107del (PEX1)	ENSP00000394413.1:n.3465+99_3465+107del
ENST00000438045.5:c.2670+99_2670+107del (PEX1)	ENSP00000410438.1:n.2670+99_2670+107del
ENST00000469417.1:n.533+99_533+107del (PEX1)
ENST00000477342.1:n.180_188del (PEX1)
ENST00000484913.5:n.3675+99_3675+107del (PEX1)
ENST00000496420.5:n.4686+104_4686+112del (PEX1)
NM_000466.2:c.3636+99_3636+107del (PEX1)	NP_000457.1:n.3636+99_3636+107del
NM_001282677.1:c.3465+99_3465+107del (PEX1)	NP_001269606.1:n.3465+99_3465+107del
NM_001282678.1:c.3012+99_3012+107del (PEX1)	NP_001269607.1:n.3012+99_3012+107del
XM_005250433.3:c.1887+99_1887+107del (PEX1)	XP_005250490.1:n.1887+99_1887+107del
XR_242246.3:n.3727+104_3727+112del (PEX1)
XR_927494.1:n.1036-1636_1036-1628del (GATAD1)
XR_927495.1:n.1036-479_1036-471del (GATAD1)
XR_927496.1:n.1041-1636_1041-1628del (GATAD1)
XR_927497.1:n.1036-479_1036-471del (GATAD1)
XR_927498.1:n.1124-1636_1124-1628del (GATAD1)
XR_927500.1:n.1033-1636_1033-1628del (GATAD1)
XR_927502.1:n.1033-479_1033-471del (GATAD1)
XR_927503.1:n.967-1636_967-1628del (GATAD1)
XM_017012319.2:c.1887+99_1887+107del (PEX1)	XP_016867808.1:n.1887+99_1887+107del
XR_001744808.2:n.2658+104_2658+112del (PEX1)
XR_001744842.2:n.2281-1636_2281-1628del (GATAD1)
XR_001744843.2:n.2212-1636_2212-1628del (GATAD1)
XR_002956472.1:n.2281-479_2281-471del (GATAD1)
XR_002956473.1:n.2369-1636_2369-1628del (GATAD1)
XR_002956474.1:n.2286-1636_2286-1628del (GATAD1)
XR_242246.5:n.3678+104_3678+112del (PEX1)
XR_927494.3:n.1063-1636_1063-1628del (GATAD1)
XR_927500.3:n.1060-1636_1060-1628del (GATAD1)
XR_927503.3:n.994-1636_994-1628del (GATAD1)
NM_000466.3:c.3636+99_3636+107del (PEX1) MANE Select	NP_000457.1:n.3636+99_3636+107del
NM_001282677.2:c.3465+99_3465+107del (PEX1)	NP_001269606.1:n.3465+99_3465+107del
NM_001282678.2:c.3012+99_3012+107del (PEX1)	NP_001269607.1:n.3012+99_3012+107del