Canonical Allele Identifier: CA2694292071

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348336-GGTCCGGAATGACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348341_101348353del , CM000685.2:g.101348341_101348353del	GRCh38
NC_000023.10:g.100603329_100603341del , CM000685.1:g.100603329_100603341del	GRCh37
NC_000023.9:g.100489985_100489997del	NCBI36
NG_009616.1:g.42876_42888del , LRG_128:g.42876_42888del
NG_011734.1:g.5621_5633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+184_132+196del MANE Select	ENSP00000361993.3:n.132+184_132+196del
ENST00000644112.2:c.*38_*50del	ENSP00000494385.1:n.*38_*50del
ENST00000645279.1:c.*38_*50del	ENSP00000494239.1:n.*38_*50del
ENST00000647480.1:n.227_239del
ENST00000372902.3:c.132+184_132+196del	ENSP00000361993.3:n.132+184_132+196del
ENST00000480575.1:n.270_282del
NM_001145951.1:c.*38_*50del	NP_001139423.1:n.*38_*50del
NM_004085.3:c.132+184_132+196del	NP_004076.1:n.132+184_132+196del
NM_004085.4:c.132+184_132+196del MANE Select	NP_004076.1:n.132+184_132+196del
NM_001145951.2:c.*38_*50del	NP_001139423.1:n.*38_*50del