Canonical Allele Identifier: CA2694292061

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348315-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348318_101348319dup , CM000685.2:g.101348318_101348319dup	GRCh38
NC_000023.10:g.100603306_100603307dup , CM000685.1:g.100603306_100603307dup	GRCh37
NC_000023.9:g.100489962_100489963dup	NCBI36
NG_009616.1:g.42908_42909dup , LRG_128:g.42908_42909dup
NG_011734.1:g.5653_5654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+216_132+217dup MANE Select	ENSP00000361993.3:n.132+216_132+217dup
ENST00000644112.2:c.*70_*71dup	ENSP00000494385.1:n.*70_*71dup
ENST00000645279.1:c.*70_*71dup	ENSP00000494239.1:n.*70_*71dup
ENST00000647480.1:n.259_260dup
ENST00000372902.3:c.132+216_132+217dup	ENSP00000361993.3:n.132+216_132+217dup
ENST00000480575.1:n.302_303dup
NM_001145951.1:c.*70_*71dup	NP_001139423.1:n.*70_*71dup
NM_004085.3:c.132+216_132+217dup	NP_004076.1:n.132+216_132+217dup
NM_004085.4:c.132+216_132+217dup MANE Select	NP_004076.1:n.132+216_132+217dup
NM_001145951.2:c.*70_*71dup	NP_001139423.1:n.*70_*71dup