Canonical Allele Identifier: CA915945345

Linked Data

ClinVar Variation Id: 813402
ClinVar RCV Id: RCV001004313
dbSNP Id: rs1585211048

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489778del , CM000669.2:g.92489778del GRCh38
NC_000007.13:g.92119092del , CM000669.1:g.92119092del GRCh37
NC_000007.12:g.91957028del NCBI36
NG_008341.1:g.43755del
NG_008341.2:g.43755del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3573del (PEX1) MANE Select ENSP00000248633.4:p.Glu1191AspfsTer6
ENST00000248633.8:c.3573del (PEX1) ENSP00000248633.4:p.Glu1191AspfsTer6
ENST00000428214.5:n.3402del (PEX1) ENSP00000394413.1:p.Glu1134AspfsTer6
ENST00000438045.5:c.2607del (PEX1) ENSP00000410438.1:p.Glu869AspfsTer6
ENST00000469417.1:n.470del (PEX1)
ENST00000477342.1:n.18del (PEX1)
ENST00000484913.5:n.3612del (PEX1)
ENST00000496420.5:n.4628del (PEX1)
NM_000466.2:c.3573del (PEX1) NP_000457.1:p.Glu1191AspfsTer6
NM_001282677.1:c.3402del (PEX1) NP_001269606.1:p.Glu1134AspfsTer6
NM_001282678.1:c.2949del (PEX1) NP_001269607.1:p.Glu983AspfsTer6
XM_005250433.3:c.1824del (PEX1) XP_005250490.1:p.Glu608AspfsTer6
XR_242246.3:n.3669del (PEX1)
XR_927494.1:n.1036-1465del (GATAD1)
XR_927495.1:n.1036-308del (GATAD1)
XR_927496.1:n.1041-1465del (GATAD1)
XR_927497.1:n.1036-308del (GATAD1)
XR_927498.1:n.1124-1465del (GATAD1)
XR_927500.1:n.1033-1465del (GATAD1)
XR_927502.1:n.1033-308del (GATAD1)
XR_927503.1:n.967-1465del (GATAD1)
XM_017012319.2:c.1824del (PEX1) XP_016867808.1:p.Glu608AspfsTer6
XR_001744808.2:n.2600del (PEX1)
XR_001744842.2:n.2281-1465del (GATAD1)
XR_001744843.2:n.2212-1465del (GATAD1)
XR_002956472.1:n.2281-308del (GATAD1)
XR_002956473.1:n.2369-1465del (GATAD1)
XR_002956474.1:n.2286-1465del (GATAD1)
XR_242246.5:n.3620del (PEX1)
XR_927494.3:n.1063-1465del (GATAD1)
XR_927500.3:n.1060-1465del (GATAD1)
XR_927503.3:n.994-1465del (GATAD1)
NM_000466.3:c.3573del (PEX1) MANE Select NP_000457.1:p.Glu1191AspfsTer6
NM_001282677.2:c.3402del (PEX1) NP_001269606.1:p.Glu1134AspfsTer6
NM_001282678.2:c.2949del (PEX1) NP_001269607.1:p.Glu983AspfsTer6