Canonical Allele Identifier: CA2742186692

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408857_2408858insAC , CM000663.2:g.2408857_2408858insAC	GRCh38
NC_000001.10:g.2340296_2340297insAC , CM000663.1:g.2340296_2340297insAC	GRCh37
NC_000001.9:g.2330156_2330157insAC	NCBI36
NG_008342.1:g.8714_8715insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.194_195insGT	ENSP00000288774.3:p.Tyr66SerfsTer?
ENST00000447513.7:c.194_195insGT MANE Select	ENSP00000407922.2:p.Tyr66SerfsTer?
ENST00000650293.1:c.148_149insGT
ENST00000288774.7:c.194_195insGT	ENSP00000288774.3:p.Tyr66SerfsTer?
ENST00000447513.6:c.194_195insGT	ENSP00000407922.2:p.Tyr66SerfsTer?
ENST00000502666.1:c.399_400insGT	ENSP00000461951.1:n.399_400insGT
ENST00000507596.5:c.194_195insGT	ENSP00000424291.1:p.Tyr66SerfsTer?
ENST00000508384.5:c.-239_-238insGT	ENSP00000464289.1:n.-239_-238insGT
ENST00000510434.1:c.194_195insGT	ENSP00000423051.1:p.Tyr66SerfsTer?
ENST00000514502.1:c.*211_*212insGT	ENSP00000425924.1:n.*211_*212insGT
ENST00000515760.1:n.328_329insGT
NM_002617.3:c.194_195insGT	NP_002608.1:p.Tyr66SerfsTer?
NM_153818.1:c.194_195insGT	NP_722540.1:p.Tyr66SerfsTer?
XM_011541573.1:c.194_195insGT	XP_011539875.1:p.Tyr66SerfsTer?
XM_011541574.1:c.-239_-238insGT	XP_011539876.1:n.-239_-238insGT
XM_011541575.1:c.-239_-238insGT	XP_011539877.1:n.-239_-238insGT
XM_011541576.1:c.194_195insGT	XP_011539878.1:p.Tyr66SerfsTer?
XR_946666.1:n.314_315insGT
XM_011541576.2:c.194_195insGT	XP_011539878.1:p.Tyr66SerfsTer?
XR_946666.2:n.263_264insGT
NM_001374425.1:c.194_195insGT	NP_001361354.1:p.Tyr66SerfsTer?
NM_001374426.1:c.-239_-238insGT	NP_001361355.1:n.-239_-238insGT
NM_001374427.1:c.-239_-238insGT	NP_001361356.1:n.-239_-238insGT
NM_002617.4:c.194_195insGT MANE Select	NP_002608.1:p.Tyr66SerfsTer?
NM_153818.2:c.194_195insGT	NP_722540.1:p.Tyr66SerfsTer?
NR_164636.1:n.313_314insGT