Canonical Allele Identifier: CA2573159062

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 1508125
• ClinVar RCV Id: RCV002009673
• dbSNP Id: rs2147418099

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348556_101348557delinsAA , CM000685.2:g.101348556_101348557delinsAA	GRCh38
NC_000023.10:g.100603544_100603545delinsAA , CM000685.1:g.100603544_100603545delinsAA	GRCh37
NC_000023.9:g.100490200_100490201delinsAA	NCBI36
NG_009616.1:g.42668_42669delinsTT , LRG_128:g.42668_42669delinsTT
NG_011734.1:g.5413_5414delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.108_109delinsTT MANE Select	ENSP00000361993.3:p.His37Tyr
ENST00000644112.2:c.108_109delinsTT	ENSP00000494385.1:p.His37Tyr
ENST00000645279.1:c.108_109delinsTT	ENSP00000494239.1:p.His37Tyr
ENST00000647480.1:n.19_20delinsTT
ENST00000372902.3:c.108_109delinsTT	ENSP00000361993.3:p.His37Tyr
ENST00000480575.1:n.193_194delinsTT
NM_001145951.1:c.108_109delinsTT	NP_001139423.1:p.His37Tyr
NM_004085.3:c.108_109delinsTT	NP_004076.1:p.His37Tyr
NM_004085.4:c.108_109delinsTT MANE Select	NP_004076.1:p.His37Tyr
NM_001145951.2:c.108_109delinsTT	NP_001139423.1:p.His37Tyr