Canonical Allele Identifier: CA2565497892
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348560del , CM000685.2:g.101348560del GRCh38
NC_000023.10:g.100603548del , CM000685.1:g.100603548del GRCh37
NC_000023.9:g.100490204del NCBI36
NG_009616.1:g.42666del , LRG_128:g.42666del
NG_011734.1:g.5411del

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.106del MANE Select ENSP00000361993.3:p.Val36CysfsTer4
ENST00000644112.2:c.106del ENSP00000494385.1:p.Val36CysfsTer4
ENST00000645279.1:c.106del ENSP00000494239.1:p.Val36CysfsTer4
ENST00000647480.1:n.17del
ENST00000372902.3:c.106del ENSP00000361993.3:p.Val36CysfsTer4
ENST00000480575.1:n.191del
NM_001145951.1:c.106del NP_001139423.1:p.Val36CysfsTer4
NM_004085.3:c.106del NP_004076.1:p.Val36CysfsTer4
NM_004085.4:c.106del MANE Select NP_004076.1:p.Val36CysfsTer4
NM_001145951.2:c.106del NP_001139423.1:p.Val36CysfsTer4