Canonical Allele Identifier: CA2822684969

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348446_101348477del , CM000685.2:g.101348446_101348477del	GRCh38
NC_000023.10:g.100603434_100603465del , CM000685.1:g.100603434_100603465del	GRCh37
NC_000023.9:g.100490090_100490121del	NCBI36
NG_009616.1:g.42748_42779del , LRG_128:g.42748_42779del
NG_011734.1:g.5493_5524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+56_132+87del MANE Select	ENSP00000361993.3:n.132+56_132+87del
ENST00000644112.2:c.132+56_133-45del	ENSP00000494385.1:n.132+56_133-45del
ENST00000645279.1:c.132+56_133-45del	ENSP00000494239.1:n.132+56_133-45del
ENST00000647480.1:n.99_130del
ENST00000372902.3:c.132+56_132+87del	ENSP00000361993.3:n.132+56_132+87del
ENST00000480575.1:n.217+56_218-45del
NM_001145951.1:c.132+56_133-45del	NP_001139423.1:n.132+56_133-45del
NM_004085.3:c.132+56_132+87del	NP_004076.1:n.132+56_132+87del
NM_004085.4:c.132+56_132+87del MANE Select	NP_004076.1:n.132+56_132+87del
NM_001145951.2:c.132+56_133-45del	NP_001139423.1:n.132+56_133-45del