Canonical Allele Identifier: CA2578937736

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489341_92489342del , CM000669.2:g.92489341_92489342del	GRCh38
NC_000007.13:g.92118655_92118656del , CM000669.1:g.92118655_92118656del	GRCh37
NC_000007.12:g.91956591_91956592del	NCBI36
NG_008341.1:g.44194_44195del
NG_008341.2:g.44194_44195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3722_3723del (PEX1) MANE Select	ENSP00000248633.4:p.Thr1241LysfsTer5
ENST00000248633.8:c.3722_3723del (PEX1)	ENSP00000248633.4:p.Thr1241LysfsTer5
ENST00000428214.5:c.3551_3552del (PEX1)	ENSP00000394413.1:p.Thr1184LysfsTer5
ENST00000438045.5:c.2756_2757del (PEX1)	ENSP00000410438.1:p.Thr919LysfsTer5
ENST00000477342.1:n.457_458del (PEX1)
ENST00000484913.5:n.3761_3762del (PEX1)
ENST00000496420.5:n.4772_4773del (PEX1)
NM_000466.2:c.3722_3723del (PEX1)	NP_000457.1:p.Thr1241LysfsTer5
NM_001282677.1:c.3551_3552del (PEX1)	NP_001269606.1:p.Thr1184LysfsTer5
NM_001282678.1:c.3098_3099del (PEX1)	NP_001269607.1:p.Thr1033LysfsTer5
XM_005250433.3:c.1973_1974del (PEX1)	XP_005250490.1:p.Thr658LysfsTer5
XR_242246.3:n.3813_3814del (PEX1)
XR_927494.1:n.1036-1902_1036-1901del (GATAD1)
XR_927495.1:n.1036-745_1036-744del (GATAD1)
XR_927496.1:n.1041-1902_1041-1901del (GATAD1)
XR_927497.1:n.1036-745_1036-744del (GATAD1)
XR_927498.1:n.1124-1902_1124-1901del (GATAD1)
XR_927500.1:n.1033-1902_1033-1901del (GATAD1)
XR_927502.1:n.1033-745_1033-744del (GATAD1)
XR_927503.1:n.967-1902_967-1901del (GATAD1)
XM_017012319.2:c.1973_1974del (PEX1)	XP_016867808.1:p.Thr658LysfsTer5
XR_001744808.2:n.2744_2745del (PEX1)
XR_001744842.2:n.2281-1902_2281-1901del (GATAD1)
XR_001744843.2:n.2212-1902_2212-1901del (GATAD1)
XR_002956472.1:n.2281-745_2281-744del (GATAD1)
XR_002956473.1:n.2369-1902_2369-1901del (GATAD1)
XR_002956474.1:n.2286-1902_2286-1901del (GATAD1)
XR_242246.5:n.3764_3765del (PEX1)
XR_927494.3:n.1063-1902_1063-1901del (GATAD1)
XR_927500.3:n.1060-1902_1060-1901del (GATAD1)
XR_927503.3:n.994-1902_994-1901del (GATAD1)
NM_000466.3:c.3722_3723del (PEX1) MANE Select	NP_000457.1:p.Thr1241LysfsTer5
NM_001282677.2:c.3551_3552del (PEX1)	NP_001269606.1:p.Thr1184LysfsTer5
NM_001282678.2:c.3098_3099del (PEX1)	NP_001269607.1:p.Thr1033LysfsTer5