Canonical Allele Identifier: CA2694291931
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348089-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348094del , CM000685.2:g.101348094del GRCh38
NC_000023.10:g.100603082del , CM000685.1:g.100603082del GRCh37
NC_000023.9:g.100489738del NCBI36
NG_009616.1:g.43135del , LRG_128:g.43135del
NG_011734.1:g.5880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+443del MANE Select ENSP00000361993.3:n.132+443del
ENST00000644112.2:c.*297del ENSP00000494385.1:n.*297del
ENST00000645279.1:c.*297del ENSP00000494239.1:n.*297del
ENST00000647480.1:n.486del
ENST00000372902.3:c.132+443del ENSP00000361993.3:n.132+443del
ENST00000480575.1:n.529del
NM_001145951.1:c.*297del NP_001139423.1:n.*297del
NM_004085.3:c.132+443del NP_004076.1:n.132+443del
NM_004085.4:c.132+443del MANE Select NP_004076.1:n.132+443del
NM_001145951.2:c.*297del NP_001139423.1:n.*297del
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