Canonical Allele Identifier: CA2694291959

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348153-A-AGATTCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348164_101348171dup , CM000685.2:g.101348164_101348171dup	GRCh38
NC_000023.10:g.100603152_100603159dup , CM000685.1:g.100603152_100603159dup	GRCh37
NC_000023.9:g.100489808_100489815dup	NCBI36
NG_009616.1:g.43064_43071dup , LRG_128:g.43064_43071dup
NG_011734.1:g.5809_5816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+372_132+379dup MANE Select	ENSP00000361993.3:n.132+372_132+379dup
ENST00000644112.2:c.*226_*233dup	ENSP00000494385.1:n.*226_*233dup
ENST00000645279.1:c.*226_*233dup	ENSP00000494239.1:n.*226_*233dup
ENST00000647480.1:n.415_422dup
ENST00000372902.3:c.132+372_132+379dup	ENSP00000361993.3:n.132+372_132+379dup
ENST00000480575.1:n.458_465dup
NM_001145951.1:c.*226_*233dup	NP_001139423.1:n.*226_*233dup
NM_004085.3:c.132+372_132+379dup	NP_004076.1:n.132+372_132+379dup
NM_004085.4:c.132+372_132+379dup MANE Select	NP_004076.1:n.132+372_132+379dup
NM_001145951.2:c.*226_*233dup	NP_001139423.1:n.*226_*233dup