Canonical Allele Identifier: CA2822684987
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348453_101348454insAGT , CM000685.2:g.101348453_101348454insAGT GRCh38
NC_000023.10:g.100603441_100603442insAGT , CM000685.1:g.100603441_100603442insAGT GRCh37
NC_000023.9:g.100490097_100490098insAGT NCBI36
NG_009616.1:g.42771_42772insACT , LRG_128:g.42771_42772insACT
NG_011734.1:g.5516_5517insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+79_132+80insACT MANE Select ENSP00000361993.3:n.132+79_132+80insACT
ENST00000644112.2:c.133-53_133-52insACT ENSP00000494385.1:n.133-53_133-52insACT
ENST00000645279.1:c.133-53_133-52insACT ENSP00000494239.1:n.133-53_133-52insACT
ENST00000647480.1:n.122_123insACT
ENST00000372902.3:c.132+79_132+80insACT ENSP00000361993.3:n.132+79_132+80insACT
ENST00000480575.1:n.218-53_218-52insACT
NM_001145951.1:c.133-53_133-52insACT NP_001139423.1:n.133-53_133-52insACT
NM_004085.3:c.132+79_132+80insACT NP_004076.1:n.132+79_132+80insACT
NM_004085.4:c.132+79_132+80insACT MANE Select NP_004076.1:n.132+79_132+80insACT
NM_001145951.2:c.133-53_133-52insACT NP_001139423.1:n.133-53_133-52insACT