Canonical Allele Identifier: CA2683716767

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489592-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489593_92489594del , CM000669.2:g.92489593_92489594del	GRCh38
NC_000007.13:g.92118907_92118908del , CM000669.1:g.92118907_92118908del	GRCh37
NC_000007.12:g.91956843_91956844del	NCBI36
NG_008341.1:g.43938_43939del
NG_008341.2:g.43938_43939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+120_3636+121del (PEX1) MANE Select	ENSP00000248633.4:n.3636+120_3636+121del
ENST00000248633.8:c.3636+120_3636+121del (PEX1)	ENSP00000248633.4:n.3636+120_3636+121del
ENST00000428214.5:c.3465+120_3465+121del (PEX1)	ENSP00000394413.1:n.3465+120_3465+121del
ENST00000438045.5:c.2670+120_2670+121del (PEX1)	ENSP00000410438.1:n.2670+120_2670+121del
ENST00000469417.1:n.533+120_533+121del (PEX1)
ENST00000477342.1:n.201_202del (PEX1)
ENST00000484913.5:n.3675+120_3675+121del (PEX1)
ENST00000496420.5:n.4686+125_4686+126del (PEX1)
NM_000466.2:c.3636+120_3636+121del (PEX1)	NP_000457.1:n.3636+120_3636+121del
NM_001282677.1:c.3465+120_3465+121del (PEX1)	NP_001269606.1:n.3465+120_3465+121del
NM_001282678.1:c.3012+120_3012+121del (PEX1)	NP_001269607.1:n.3012+120_3012+121del
XM_005250433.3:c.1887+120_1887+121del (PEX1)	XP_005250490.1:n.1887+120_1887+121del
XR_242246.3:n.3727+125_3727+126del (PEX1)
XR_927494.1:n.1036-1650_1036-1649del (GATAD1)
XR_927495.1:n.1036-493_1036-492del (GATAD1)
XR_927496.1:n.1041-1650_1041-1649del (GATAD1)
XR_927497.1:n.1036-493_1036-492del (GATAD1)
XR_927498.1:n.1124-1650_1124-1649del (GATAD1)
XR_927500.1:n.1033-1650_1033-1649del (GATAD1)
XR_927502.1:n.1033-493_1033-492del (GATAD1)
XR_927503.1:n.967-1650_967-1649del (GATAD1)
XM_017012319.2:c.1887+120_1887+121del (PEX1)	XP_016867808.1:n.1887+120_1887+121del
XR_001744808.2:n.2658+125_2658+126del (PEX1)
XR_001744842.2:n.2281-1650_2281-1649del (GATAD1)
XR_001744843.2:n.2212-1650_2212-1649del (GATAD1)
XR_002956472.1:n.2281-493_2281-492del (GATAD1)
XR_002956473.1:n.2369-1650_2369-1649del (GATAD1)
XR_002956474.1:n.2286-1650_2286-1649del (GATAD1)
XR_242246.5:n.3678+125_3678+126del (PEX1)
XR_927494.3:n.1063-1650_1063-1649del (GATAD1)
XR_927500.3:n.1060-1650_1060-1649del (GATAD1)
XR_927503.3:n.994-1650_994-1649del (GATAD1)
NM_000466.3:c.3636+120_3636+121del (PEX1) MANE Select	NP_000457.1:n.3636+120_3636+121del
NM_001282677.2:c.3465+120_3465+121del (PEX1)	NP_001269606.1:n.3465+120_3465+121del
NM_001282678.2:c.3012+120_3012+121del (PEX1)	NP_001269607.1:n.3012+120_3012+121del