Canonical Allele Identifier: CA2840505115

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406522dup , CM000663.2:g.2406522dup	GRCh38
NC_000001.10:g.2337961dup , CM000663.1:g.2337961dup	GRCh37
NC_000001.9:g.2327821dup	NCBI36
NG_008342.1:g.11051dup
NG_016128.1:g.19748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.935dup	ENSP00000288774.3:p.Cys313LeufsTer?
ENST00000447513.7:c.875dup MANE Select	ENSP00000407922.2:p.Cys293LeufsTer?
ENST00000650293.1:c.829dup
ENST00000288774.7:c.935dup	ENSP00000288774.3:p.Cys313LeufsTer?
ENST00000447513.6:c.875dup	ENSP00000407922.2:p.Cys293LeufsTer?
ENST00000507596.5:c.875dup	ENSP00000424291.1:p.Cys293LeufsTer?
ENST00000510434.1:c.*241dup	ENSP00000423051.1:n.*241dup
NM_002617.3:c.875dup	NP_002608.1:p.Cys293LeufsTer?
NM_153818.1:c.935dup	NP_722540.1:p.Cys313LeufsTer?
XM_011541573.1:c.932dup	XP_011539875.1:p.Cys312LeufsTer?
XM_011541574.1:c.500dup	XP_011539876.1:p.Cys168LeufsTer?
XM_011541575.1:c.500dup	XP_011539877.1:p.Cys168LeufsTer?
XR_946666.1:n.991dup
XR_946666.2:n.940dup
NM_001374425.1:c.932dup	NP_001361354.1:p.Cys312LeufsTer?
NM_001374426.1:c.500dup	NP_001361355.1:p.Cys168LeufsTer?
NM_001374427.1:c.443dup	NP_001361356.1:p.Cys149LeufsTer?
NM_002617.4:c.875dup MANE Select	NP_002608.1:p.Cys293LeufsTer?
NM_153818.2:c.935dup	NP_722540.1:p.Cys313LeufsTer?
NR_164636.1:n.990dup