Canonical Allele Identifier: CA203141
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 197886
ClinVar RCV Id: RCV000179026
dbSNP Id: rs797044762
MyVariant Identifiers: chr1:g.2337967_2337968insC (hg19) chr1:g.2406528_2406529insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406528_2406529insC , CM000663.2:g.2406528_2406529insC GRCh38
NC_000001.10:g.2337967_2337968insC , CM000663.1:g.2337967_2337968insC GRCh37
NC_000001.9:g.2327827_2327828insC NCBI36
NG_008342.1:g.11043_11044insG
NG_016128.1:g.19754_19755insC

Transcript Alleles

HGVS Amino-acid change
ENST00000288774.8:c.927_928insG ENSP00000288774.3:p.His310AlafsTer?
ENST00000447513.7:c.867_868insG MANE Select ENSP00000407922.2:p.His290AlafsTer?
ENST00000650293.1:c.821_822insG
ENST00000288774.7:c.927_928insG ENSP00000288774.3:p.His310AlafsTer?
ENST00000447513.6:c.867_868insG ENSP00000407922.2:p.His290AlafsTer?
ENST00000507596.5:c.867_868insG ENSP00000424291.1:p.His290AlafsTer?
ENST00000510434.1:c.*233_*234insG ENSP00000423051.1:n.*233_*234insG
NM_002617.3:c.867_868insG NP_002608.1:p.His290AlafsTer?
NM_153818.1:c.927_928insG NP_722540.1:p.His310AlafsTer?
XM_011541573.1:c.924_925insG XP_011539875.1:p.His309AlafsTer?
XM_011541574.1:c.492_493insG XP_011539876.1:p.His165AlafsTer?
XM_011541575.1:c.492_493insG XP_011539877.1:p.His165AlafsTer?
XR_946666.1:n.983_984insG
XR_946666.2:n.932_933insG
NM_001374425.1:c.924_925insG NP_001361354.1:p.His309AlafsTer?
NM_001374426.1:c.492_493insG NP_001361355.1:p.His165AlafsTer?
NM_001374427.1:c.435_436insG NP_001361356.1:p.His146AlafsTer?
NM_002617.4:c.867_868insG MANE Select NP_002608.1:p.His290AlafsTer?
NM_153818.2:c.927_928insG NP_722540.1:p.His310AlafsTer?
NR_164636.1:n.982_983insG
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