Canonical Allele Identifier: CA645567338

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 554198
• ClinVar RCV Id: RCV000669785
• dbSNP Id: rs1554366550
• COSMIC: COSM1683639
• MyVariant Identifiers: chr7:g.92489324_92489328dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489324_92489328dup , CM000669.2:g.92489324_92489328dup	GRCh38
NC_000007.13:g.92118638_92118642dup , CM000669.1:g.92118638_92118642dup	GRCh37
NC_000007.12:g.91956574_91956578dup	NCBI36
NG_008341.1:g.44204_44208dup
NG_008341.2:g.44204_44208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3732_3736dup (PEX1) MANE Select	ENSP00000248633.4:p.Ser1246ThrfsTer?
ENST00000248633.8:c.3732_3736dup (PEX1)	ENSP00000248633.4:p.Ser1246ThrfsTer?
ENST00000428214.5:c.3561_3565dup (PEX1)	ENSP00000394413.1:p.Ser1189ThrfsTer?
ENST00000438045.5:c.2766_2770dup (PEX1)	ENSP00000410438.1:p.Ser924ThrfsTer?
ENST00000477342.1:n.467_471dup (PEX1)
ENST00000484913.5:n.3771_3775dup (PEX1)
ENST00000496420.5:n.4782_4786dup (PEX1)
NM_000466.2:c.3732_3736dup (PEX1)	NP_000457.1:p.Ser1246ThrfsTer?
NM_001282677.1:c.3561_3565dup (PEX1)	NP_001269606.1:p.Ser1189ThrfsTer?
NM_001282678.1:c.3108_3112dup (PEX1)	NP_001269607.1:p.Ser1038ThrfsTer?
XM_005250433.3:c.1983_1987dup (PEX1)	XP_005250490.1:p.Ser663ThrfsTer?
XR_242246.3:n.3823_3827dup (PEX1)
XR_927494.1:n.1036-1919_1036-1915dup (GATAD1)
XR_927495.1:n.1036-762_1036-758dup (GATAD1)
XR_927496.1:n.1041-1919_1041-1915dup (GATAD1)
XR_927497.1:n.1036-762_1036-758dup (GATAD1)
XR_927498.1:n.1124-1919_1124-1915dup (GATAD1)
XR_927500.1:n.1033-1919_1033-1915dup (GATAD1)
XR_927502.1:n.1033-762_1033-758dup (GATAD1)
XR_927503.1:n.967-1919_967-1915dup (GATAD1)
XM_017012319.2:c.1983_1987dup (PEX1)	XP_016867808.1:p.Ser663ThrfsTer?
XR_001744808.2:n.2754_2758dup (PEX1)
XR_001744842.2:n.2281-1919_2281-1915dup (GATAD1)
XR_001744843.2:n.2212-1919_2212-1915dup (GATAD1)
XR_002956472.1:n.2281-762_2281-758dup (GATAD1)
XR_002956473.1:n.2369-1919_2369-1915dup (GATAD1)
XR_002956474.1:n.2286-1919_2286-1915dup (GATAD1)
XR_242246.5:n.3774_3778dup (PEX1)
XR_927494.3:n.1063-1919_1063-1915dup (GATAD1)
XR_927500.3:n.1060-1919_1060-1915dup (GATAD1)
XR_927503.3:n.994-1919_994-1915dup (GATAD1)
NM_000466.3:c.3732_3736dup (PEX1) MANE Select	NP_000457.1:p.Ser1246ThrfsTer?
NM_001282677.2:c.3561_3565dup (PEX1)	NP_001269606.1:p.Ser1189ThrfsTer?
NM_001282678.2:c.3108_3112dup (PEX1)	NP_001269607.1:p.Ser1038ThrfsTer?