Canonical Allele Identifier: CA913127948

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119082_92119084del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489768_92489770del , CM000669.2:g.92489768_92489770del	GRCh38
NC_000007.13:g.92119082_92119084del , CM000669.1:g.92119082_92119084del	GRCh37
NC_000007.12:g.91957018_91957020del	NCBI36
NG_008341.1:g.43762_43764del
NG_008341.2:g.43762_43764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3580_3582del (PEX1) MANE Select	ENSP00000248633.4:p.Asp1194del
ENST00000248633.8:c.3580_3582del (PEX1)	ENSP00000248633.4:p.Asp1194del
ENST00000428214.5:c.3409_3411del (PEX1)	ENSP00000394413.1:p.Asp1137del
ENST00000438045.5:c.2614_2616del (PEX1)	ENSP00000410438.1:p.Asp872del
ENST00000469417.1:n.477_479del (PEX1)
ENST00000477342.1:n.25_27del (PEX1)
ENST00000484913.5:n.3619_3621del (PEX1)
ENST00000496420.5:n.4635_4637del (PEX1)
NM_000466.2:c.3580_3582del (PEX1)	NP_000457.1:p.Asp1194del
NM_001282677.1:c.3409_3411del (PEX1)	NP_001269606.1:p.Asp1137del
NM_001282678.1:c.2956_2958del (PEX1)	NP_001269607.1:p.Asp986del
XM_005250433.3:c.1831_1833del (PEX1)	XP_005250490.1:p.Asp611del
XR_242246.3:n.3676_3678del (PEX1)
XR_927494.1:n.1036-1475_1036-1473del (GATAD1)
XR_927495.1:n.1036-318_1036-316del (GATAD1)
XR_927496.1:n.1041-1475_1041-1473del (GATAD1)
XR_927497.1:n.1036-318_1036-316del (GATAD1)
XR_927498.1:n.1124-1475_1124-1473del (GATAD1)
XR_927500.1:n.1033-1475_1033-1473del (GATAD1)
XR_927502.1:n.1033-318_1033-316del (GATAD1)
XR_927503.1:n.967-1475_967-1473del (GATAD1)
XM_017012319.2:c.1831_1833del (PEX1)	XP_016867808.1:p.Asp611del
XR_001744808.2:n.2607_2609del (PEX1)
XR_001744842.2:n.2281-1475_2281-1473del (GATAD1)
XR_001744843.2:n.2212-1475_2212-1473del (GATAD1)
XR_002956472.1:n.2281-318_2281-316del (GATAD1)
XR_002956473.1:n.2369-1475_2369-1473del (GATAD1)
XR_002956474.1:n.2286-1475_2286-1473del (GATAD1)
XR_242246.5:n.3627_3629del (PEX1)
XR_927494.3:n.1063-1475_1063-1473del (GATAD1)
XR_927500.3:n.1060-1475_1060-1473del (GATAD1)
XR_927503.3:n.994-1475_994-1473del (GATAD1)
NM_000466.3:c.3580_3582del (PEX1) MANE Select	NP_000457.1:p.Asp1194del
NM_001282677.2:c.3409_3411del (PEX1)	NP_001269606.1:p.Asp1137del
NM_001282678.2:c.2956_2958del (PEX1)	NP_001269607.1:p.Asp986del