Canonical Allele Identifier: CA2573131884

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1362935
• ClinVar RCV Id: RCV001934665 ; RCV003475128
• dbSNP Id: rs2100429011

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408636_2408651dup , CM000663.2:g.2408636_2408651dup	GRCh38
NC_000001.10:g.2340075_2340090dup , CM000663.1:g.2340075_2340090dup	GRCh37
NC_000001.9:g.2329935_2329950dup	NCBI36
NG_008342.1:g.8921_8936dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.401_416dup	ENSP00000288774.3:p.Gly140TrpfsTer20
ENST00000447513.7:c.401_416dup MANE Select	ENSP00000407922.2:p.Gly140TrpfsTer20
ENST00000650293.1:c.355_370dup
ENST00000288774.7:c.401_416dup	ENSP00000288774.3:p.Gly140TrpfsTer20
ENST00000447513.6:c.401_416dup	ENSP00000407922.2:p.Gly140TrpfsTer20
ENST00000502666.1:c.606_621dup	ENSP00000461951.1:n.606_621dup
ENST00000507596.5:c.401_416dup	ENSP00000424291.1:p.Gly140TrpfsTer20
ENST00000508384.5:c.-32_-17dup	ENSP00000464289.1:n.-32_-17dup
ENST00000510434.1:c.401_416dup	ENSP00000423051.1:p.Gly140TrpfsTer20
ENST00000515760.1:n.535_550dup
NM_002617.3:c.401_416dup	NP_002608.1:p.Gly140TrpfsTer20
NM_153818.1:c.401_416dup	NP_722540.1:p.Gly140TrpfsTer20
XM_011541573.1:c.401_416dup	XP_011539875.1:p.Gly140TrpfsTer20
XM_011541574.1:c.-32_-17dup	XP_011539876.1:n.-32_-17dup
XM_011541575.1:c.-32_-17dup	XP_011539877.1:n.-32_-17dup
XM_011541576.1:c.401_416dup	XP_011539878.1:p.Gly140TrpfsTer20
XR_946666.1:n.521_536dup
XM_011541576.2:c.401_416dup	XP_011539878.1:p.Gly140TrpfsTer20
XR_946666.2:n.470_485dup
NM_001374425.1:c.401_416dup	NP_001361354.1:p.Gly140TrpfsTer20
NM_001374426.1:c.-32_-17dup	NP_001361355.1:n.-32_-17dup
NM_001374427.1:c.-32_-17dup	NP_001361356.1:n.-32_-17dup
NM_002617.4:c.401_416dup MANE Select	NP_002608.1:p.Gly140TrpfsTer20
NM_153818.2:c.401_416dup	NP_722540.1:p.Gly140TrpfsTer20
NR_164636.1:n.520_535dup