Canonical Allele Identifier: CA358816

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 11326
• ClinVar RCV Id: RCV000012078
• dbSNP Id: rs869320667
• MyVariant Identifiers: chrX:g.100603526del (hg19) ; chrX:g.101348538del (hg38)
• PubMed: PMID:16411215

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348540del , CM000685.2:g.101348540del	GRCh38
NC_000023.10:g.100603528del , CM000685.1:g.100603528del	GRCh37
NC_000023.9:g.100490184del	NCBI36
NG_009616.1:g.42687del , LRG_128:g.42687del
NG_011734.1:g.5432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.127del MANE Select	ENSP00000361993.3:p.Cys43ValfsTer22
ENST00000644112.2:c.127del	ENSP00000494385.1:p.Cys43ValfsTer13
ENST00000645279.1:c.127del	ENSP00000494239.1:p.Cys43ValfsTer13
ENST00000647480.1:n.38del
ENST00000372902.3:c.127del	ENSP00000361993.3:p.Cys43ValfsTer22
ENST00000480575.1:n.212del
NM_001145951.1:c.127del	NP_001139423.1:p.Cys43ValfsTer13
NM_004085.3:c.127del	NP_004076.1:p.Cys43ValfsTer22
NM_004085.4:c.127del MANE Select	NP_004076.1:p.Cys43ValfsTer22
NM_001145951.2:c.127del	NP_001139423.1:p.Cys43ValfsTer13