Canonical Allele Identifier: CA2822685012
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348486_101348529del , CM000685.2:g.101348486_101348529del GRCh38
NC_000023.10:g.100603474_100603517del , CM000685.1:g.100603474_100603517del GRCh37
NC_000023.9:g.100490130_100490173del NCBI36
NG_009616.1:g.42696_42739del , LRG_128:g.42696_42739del
NG_011734.1:g.5441_5484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+4_132+47del MANE Select ENSP00000361993.3:n.132+4_132+47del
ENST00000644112.2:c.132+4_132+47del ENSP00000494385.1:n.132+4_132+47del
ENST00000645279.1:c.132+4_132+47del ENSP00000494239.1:n.132+4_132+47del
ENST00000647480.1:n.47_90del
ENST00000372902.3:c.132+4_132+47del ENSP00000361993.3:n.132+4_132+47del
ENST00000480575.1:n.217+4_217+47del
NM_001145951.1:c.132+4_132+47del NP_001139423.1:n.132+4_132+47del
NM_004085.3:c.132+4_132+47del NP_004076.1:n.132+4_132+47del
NM_004085.4:c.132+4_132+47del MANE Select NP_004076.1:n.132+4_132+47del
NM_001145951.2:c.132+4_132+47del NP_001139423.1:n.132+4_132+47del