Canonical Allele Identifier: CA576302699

Linked Data

dbSNP Id: rs1444081518

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489255dup , CM000669.2:g.92489255dup GRCh38
NC_000007.13:g.92118569dup , CM000669.1:g.92118569dup GRCh37
NC_000007.12:g.91956505dup NCBI36
NG_008341.1:g.44278dup
NG_008341.2:g.44278dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3767+39dup (PEX1) MANE Select ENSP00000248633.4:n.3767+39dup
ENST00000248633.8:c.3767+39dup (PEX1) ENSP00000248633.4:n.3767+39dup
ENST00000428214.5:c.3596+39dup (PEX1) ENSP00000394413.1:n.3596+39dup
ENST00000438045.5:c.2801+39dup (PEX1) ENSP00000410438.1:n.2801+39dup
ENST00000477342.1:n.502+39dup (PEX1)
ENST00000484913.5:n.3806+39dup (PEX1)
ENST00000496420.5:n.4817+39dup (PEX1)
NM_000466.2:c.3767+39dup (PEX1) NP_000457.1:n.3767+39dup
NM_001282677.1:c.3596+39dup (PEX1) NP_001269606.1:n.3596+39dup
NM_001282678.1:c.3143+39dup (PEX1) NP_001269607.1:n.3143+39dup
XM_005250433.3:c.2018+39dup (PEX1) XP_005250490.1:n.2018+39dup
XR_242246.3:n.3858+39dup (PEX1)
XR_927494.1:n.1036-1988dup (GATAD1)
XR_927495.1:n.1036-831dup (GATAD1)
XR_927496.1:n.1041-1988dup (GATAD1)
XR_927497.1:n.1036-831dup (GATAD1)
XR_927498.1:n.1124-1988dup (GATAD1)
XR_927500.1:n.1033-1988dup (GATAD1)
XR_927502.1:n.1033-831dup (GATAD1)
XR_927503.1:n.967-1988dup (GATAD1)
XM_017012319.2:c.2018+39dup (PEX1) XP_016867808.1:n.2018+39dup
XR_001744808.2:n.2789+39dup (PEX1)
XR_001744842.2:n.2281-1988dup (GATAD1)
XR_001744843.2:n.2212-1988dup (GATAD1)
XR_002956472.1:n.2281-831dup (GATAD1)
XR_002956473.1:n.2369-1988dup (GATAD1)
XR_002956474.1:n.2286-1988dup (GATAD1)
XR_242246.5:n.3809+39dup (PEX1)
XR_927494.3:n.1063-1988dup (GATAD1)
XR_927500.3:n.1060-1988dup (GATAD1)
XR_927503.3:n.994-1988dup (GATAD1)
NM_000466.3:c.3767+39dup (PEX1) MANE Select NP_000457.1:n.3767+39dup
NM_001282677.2:c.3596+39dup (PEX1) NP_001269606.1:n.3596+39dup
NM_001282678.2:c.3143+39dup (PEX1) NP_001269607.1:n.3143+39dup