Canonical Allele Identifier: CA2448281336

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1926128563

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348203del , CM000685.2:g.101348203del	GRCh38
NC_000023.10:g.100603191del , CM000685.1:g.100603191del	GRCh37
NC_000023.9:g.100489847del	NCBI36
NG_009616.1:g.43022del , LRG_128:g.43022del
NG_011734.1:g.5767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+330del MANE Select	ENSP00000361993.3:n.132+330del
ENST00000644112.2:c.*184del	ENSP00000494385.1:n.*184del
ENST00000645279.1:c.*184del	ENSP00000494239.1:n.*184del
ENST00000647480.1:n.373del
ENST00000372902.3:c.132+330del	ENSP00000361993.3:n.132+330del
ENST00000480575.1:n.416del
NM_001145951.1:c.*184del	NP_001139423.1:n.*184del
NM_004085.3:c.132+330del	NP_004076.1:n.132+330del
NM_004085.4:c.132+330del MANE Select	NP_004076.1:n.132+330del
NM_001145951.2:c.*184del	NP_001139423.1:n.*184del