Canonical Allele Identifier: CA2580062506

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1724122
• ClinVar RCV Id: RCV002306677

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408829_2408830del , CM000663.2:g.2408829_2408830del	GRCh38
NC_000001.10:g.2340268_2340269del , CM000663.1:g.2340268_2340269del	GRCh37
NC_000001.9:g.2330128_2330129del	NCBI36
NG_008342.1:g.8742_8743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.222_223del	ENSP00000288774.3:p.Ser75HisfsTer?
ENST00000447513.7:c.222_223del MANE Select	ENSP00000407922.2:p.Ser75HisfsTer?
ENST00000650293.1:c.176_177del
ENST00000288774.7:c.222_223del	ENSP00000288774.3:p.Ser75HisfsTer?
ENST00000447513.6:c.222_223del	ENSP00000407922.2:p.Ser75HisfsTer?
ENST00000502666.1:c.427_428del	ENSP00000461951.1:n.427_428del
ENST00000507596.5:c.222_223del	ENSP00000424291.1:p.Ser75HisfsTer?
ENST00000508384.5:c.-211_-210del	ENSP00000464289.1:n.-211_-210del
ENST00000510434.1:c.222_223del	ENSP00000423051.1:p.Ser75HisfsTer?
ENST00000514502.1:c.*239_*240del	ENSP00000425924.1:n.*239_*240del
ENST00000515760.1:n.356_357del
NM_002617.3:c.222_223del	NP_002608.1:p.Ser75HisfsTer?
NM_153818.1:c.222_223del	NP_722540.1:p.Ser75HisfsTer?
XM_011541573.1:c.222_223del	XP_011539875.1:p.Ser75HisfsTer?
XM_011541574.1:c.-211_-210del	XP_011539876.1:n.-211_-210del
XM_011541575.1:c.-211_-210del	XP_011539877.1:n.-211_-210del
XM_011541576.1:c.222_223del	XP_011539878.1:p.Ser75HisfsTer?
XR_946666.1:n.342_343del
XM_011541576.2:c.222_223del	XP_011539878.1:p.Ser75HisfsTer?
XR_946666.2:n.291_292del
NM_001374425.1:c.222_223del	NP_001361354.1:p.Ser75HisfsTer?
NM_001374426.1:c.-211_-210del	NP_001361355.1:n.-211_-210del
NM_001374427.1:c.-211_-210del	NP_001361356.1:n.-211_-210del
NM_002617.4:c.222_223del MANE Select	NP_002608.1:p.Ser75HisfsTer?
NM_153818.2:c.222_223del	NP_722540.1:p.Ser75HisfsTer?
NR_164636.1:n.341_342del