Canonical Allele Identifier: CA2822685004
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348472_101348482del , CM000685.2:g.101348472_101348482del GRCh38
NC_000023.10:g.100603460_100603470del , CM000685.1:g.100603460_100603470del GRCh37
NC_000023.9:g.100490116_100490126del NCBI36
NG_009616.1:g.42743_42753del , LRG_128:g.42743_42753del
NG_011734.1:g.5488_5498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+51_132+61del MANE Select ENSP00000361993.3:n.132+51_132+61del
ENST00000644112.2:c.132+51_132+61del ENSP00000494385.1:n.132+51_132+61del
ENST00000645279.1:c.132+51_132+61del ENSP00000494239.1:n.132+51_132+61del
ENST00000647480.1:n.94_104del
ENST00000372902.3:c.132+51_132+61del ENSP00000361993.3:n.132+51_132+61del
ENST00000480575.1:n.217+51_217+61del
NM_001145951.1:c.132+51_132+61del NP_001139423.1:n.132+51_132+61del
NM_004085.3:c.132+51_132+61del NP_004076.1:n.132+51_132+61del
NM_004085.4:c.132+51_132+61del MANE Select NP_004076.1:n.132+51_132+61del
NM_001145951.2:c.132+51_132+61del NP_001139423.1:n.132+51_132+61del