Canonical Allele Identifier: CA2695235736

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348604_101348620dup , CM000685.2:g.101348604_101348620dup	GRCh38
NC_000023.10:g.100603592_100603608dup , CM000685.1:g.100603592_100603608dup	GRCh37
NC_000023.9:g.100490248_100490264dup	NCBI36
NG_009616.1:g.42605_42621dup , LRG_128:g.42605_42621dup
NG_011734.1:g.5350_5366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.45_61dup MANE Select	ENSP00000361993.3:p.His21ArgfsTer11
ENST00000644112.2:c.45_61dup	ENSP00000494385.1:p.His21ArgfsTer11
ENST00000645279.1:c.45_61dup	ENSP00000494239.1:p.His21ArgfsTer11
ENST00000372902.3:c.45_61dup	ENSP00000361993.3:p.His21ArgfsTer11
ENST00000480575.1:n.130_146dup
NM_001145951.1:c.45_61dup	NP_001139423.1:p.His21ArgfsTer11
NM_004085.3:c.45_61dup	NP_004076.1:p.His21ArgfsTer11
NM_004085.4:c.45_61dup MANE Select	NP_004076.1:p.His21ArgfsTer11
NM_001145951.2:c.45_61dup	NP_001139423.1:p.His21ArgfsTer11