Canonical Allele Identifier: CA2694291955
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348141-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348143del , CM000685.2:g.101348143del GRCh38
NC_000023.10:g.100603131del , CM000685.1:g.100603131del GRCh37
NC_000023.9:g.100489787del NCBI36
NG_009616.1:g.43083del , LRG_128:g.43083del
NG_011734.1:g.5828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+391del MANE Select ENSP00000361993.3:n.132+391del
ENST00000644112.2:c.*245del ENSP00000494385.1:n.*245del
ENST00000645279.1:c.*245del ENSP00000494239.1:n.*245del
ENST00000647480.1:n.434del
ENST00000372902.3:c.132+391del ENSP00000361993.3:n.132+391del
ENST00000480575.1:n.477del
NM_001145951.1:c.*245del NP_001139423.1:n.*245del
NM_004085.3:c.132+391del NP_004076.1:n.132+391del
NM_004085.4:c.132+391del MANE Select NP_004076.1:n.132+391del
NM_001145951.2:c.*245del NP_001139423.1:n.*245del
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