Canonical Allele Identifier: CA2448281347

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1926129980

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348245_101348252del , CM000685.2:g.101348245_101348252del	GRCh38
NC_000023.10:g.100603233_100603240del , CM000685.1:g.100603233_100603240del	GRCh37
NC_000023.9:g.100489889_100489896del	NCBI36
NG_009616.1:g.42975_42982del , LRG_128:g.42975_42982del
NG_011734.1:g.5720_5727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+283_132+290del MANE Select	ENSP00000361993.3:n.132+283_132+290del
ENST00000644112.2:c.*137_*144del	ENSP00000494385.1:n.*137_*144del
ENST00000645279.1:c.*137_*144del	ENSP00000494239.1:n.*137_*144del
ENST00000647480.1:n.326_333del
ENST00000372902.3:c.132+283_132+290del	ENSP00000361993.3:n.132+283_132+290del
ENST00000480575.1:n.369_376del
NM_001145951.1:c.*137_*144del	NP_001139423.1:n.*137_*144del
NM_004085.3:c.132+283_132+290del	NP_004076.1:n.132+283_132+290del
NM_004085.4:c.132+283_132+290del MANE Select	NP_004076.1:n.132+283_132+290del
NM_001145951.2:c.*137_*144del	NP_001139423.1:n.*137_*144del