Canonical Allele Identifier: CA2776945441

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489628_92489633del , CM000669.2:g.92489628_92489633del	GRCh38
NC_000007.13:g.92118942_92118947del , CM000669.1:g.92118942_92118947del	GRCh37
NC_000007.12:g.91956878_91956883del	NCBI36
NG_008341.1:g.43899_43904del
NG_008341.2:g.43899_43904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+81_3636+86del (PEX1) MANE Select	ENSP00000248633.4:n.3636+81_3636+86del
ENST00000248633.8:c.3636+81_3636+86del (PEX1)	ENSP00000248633.4:n.3636+81_3636+86del
ENST00000428214.5:c.3465+81_3465+86del (PEX1)	ENSP00000394413.1:n.3465+81_3465+86del
ENST00000438045.5:c.2670+81_2670+86del (PEX1)	ENSP00000410438.1:n.2670+81_2670+86del
ENST00000469417.1:n.533+81_533+86del (PEX1)
ENST00000477342.1:n.162_167del (PEX1)
ENST00000484913.5:n.3675+81_3675+86del (PEX1)
ENST00000496420.5:n.4686+86_4686+91del (PEX1)
NM_000466.2:c.3636+81_3636+86del (PEX1)	NP_000457.1:n.3636+81_3636+86del
NM_001282677.1:c.3465+81_3465+86del (PEX1)	NP_001269606.1:n.3465+81_3465+86del
NM_001282678.1:c.3012+81_3012+86del (PEX1)	NP_001269607.1:n.3012+81_3012+86del
XM_005250433.3:c.1887+81_1887+86del (PEX1)	XP_005250490.1:n.1887+81_1887+86del
XR_242246.3:n.3727+86_3727+91del (PEX1)
XR_927494.1:n.1036-1615_1036-1610del (GATAD1)
XR_927495.1:n.1036-458_1036-453del (GATAD1)
XR_927496.1:n.1041-1615_1041-1610del (GATAD1)
XR_927497.1:n.1036-458_1036-453del (GATAD1)
XR_927498.1:n.1124-1615_1124-1610del (GATAD1)
XR_927500.1:n.1033-1615_1033-1610del (GATAD1)
XR_927502.1:n.1033-458_1033-453del (GATAD1)
XR_927503.1:n.967-1615_967-1610del (GATAD1)
XM_017012319.2:c.1887+81_1887+86del (PEX1)	XP_016867808.1:n.1887+81_1887+86del
XR_001744808.2:n.2658+86_2658+91del (PEX1)
XR_001744842.2:n.2281-1615_2281-1610del (GATAD1)
XR_001744843.2:n.2212-1615_2212-1610del (GATAD1)
XR_002956472.1:n.2281-458_2281-453del (GATAD1)
XR_002956473.1:n.2369-1615_2369-1610del (GATAD1)
XR_002956474.1:n.2286-1615_2286-1610del (GATAD1)
XR_242246.5:n.3678+86_3678+91del (PEX1)
XR_927494.3:n.1063-1615_1063-1610del (GATAD1)
XR_927500.3:n.1060-1615_1060-1610del (GATAD1)
XR_927503.3:n.994-1615_994-1610del (GATAD1)
NM_000466.3:c.3636+81_3636+86del (PEX1) MANE Select	NP_000457.1:n.3636+81_3636+86del
NM_001282677.2:c.3465+81_3465+86del (PEX1)	NP_001269606.1:n.3465+81_3465+86del
NM_001282678.2:c.3012+81_3012+86del (PEX1)	NP_001269607.1:n.3012+81_3012+86del