Canonical Allele Identifier: CA2573131885

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1358056
• ClinVar RCV Id: RCV001863977
• dbSNP Id: rs2100429705

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408752_2408753delinsAT , CM000663.2:g.2408752_2408753delinsAT	GRCh38
NC_000001.10:g.2340191_2340192delinsAT , CM000663.1:g.2340191_2340192delinsAT	GRCh37
NC_000001.9:g.2330051_2330052delinsAT	NCBI36
NG_008342.1:g.8819_8820delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.299_300delinsAT	ENSP00000288774.3:p.Ala100Asp
ENST00000447513.7:c.299_300delinsAT MANE Select	ENSP00000407922.2:p.Ala100Asp
ENST00000650293.1:c.253_254delinsAT
ENST00000288774.7:c.299_300delinsAT	ENSP00000288774.3:p.Ala100Asp
ENST00000447513.6:c.299_300delinsAT	ENSP00000407922.2:p.Ala100Asp
ENST00000502666.1:c.504_505delinsAT	ENSP00000461951.1:n.504_505delinsAT
ENST00000507596.5:c.299_300delinsAT	ENSP00000424291.1:p.Ala100Asp
ENST00000508384.5:c.-134_-133delinsAT	ENSP00000464289.1:n.-134_-133delinsAT
ENST00000510434.1:c.299_300delinsAT	ENSP00000423051.1:p.Ala100Asp
ENST00000515760.1:n.433_434delinsAT
NM_002617.3:c.299_300delinsAT	NP_002608.1:p.Ala100Asp
NM_153818.1:c.299_300delinsAT	NP_722540.1:p.Ala100Asp
XM_011541573.1:c.299_300delinsAT	XP_011539875.1:p.Ala100Asp
XM_011541574.1:c.-134_-133delinsAT	XP_011539876.1:n.-134_-133delinsAT
XM_011541575.1:c.-134_-133delinsAT	XP_011539877.1:n.-134_-133delinsAT
XM_011541576.1:c.299_300delinsAT	XP_011539878.1:p.Ala100Asp
XR_946666.1:n.419_420delinsAT
XM_011541576.2:c.299_300delinsAT	XP_011539878.1:p.Ala100Asp
XR_946666.2:n.368_369delinsAT
NM_001374425.1:c.299_300delinsAT	NP_001361354.1:p.Ala100Asp
NM_001374426.1:c.-134_-133delinsAT	NP_001361355.1:n.-134_-133delinsAT
NM_001374427.1:c.-134_-133delinsAT	NP_001361356.1:n.-134_-133delinsAT
NM_002617.4:c.299_300delinsAT MANE Select	NP_002608.1:p.Ala100Asp
NM_153818.2:c.299_300delinsAT	NP_722540.1:p.Ala100Asp
NR_164636.1:n.418_419delinsAT