Canonical Allele Identifier: CA2694292010

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348226-AGTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348227_101348230del , CM000685.2:g.101348227_101348230del	GRCh38
NC_000023.10:g.100603215_100603218del , CM000685.1:g.100603215_100603218del	GRCh37
NC_000023.9:g.100489871_100489874del	NCBI36
NG_009616.1:g.42995_42998del , LRG_128:g.42995_42998del
NG_011734.1:g.5740_5743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+303_132+306del MANE Select	ENSP00000361993.3:n.132+303_132+306del
ENST00000644112.2:c.*157_*160del	ENSP00000494385.1:n.*157_*160del
ENST00000645279.1:c.*157_*160del	ENSP00000494239.1:n.*157_*160del
ENST00000647480.1:n.346_349del
ENST00000372902.3:c.132+303_132+306del	ENSP00000361993.3:n.132+303_132+306del
ENST00000480575.1:n.389_392del
NM_001145951.1:c.*157_*160del	NP_001139423.1:n.*157_*160del
NM_004085.3:c.132+303_132+306del	NP_004076.1:n.132+303_132+306del
NM_004085.4:c.132+303_132+306del MANE Select	NP_004076.1:n.132+303_132+306del
NM_001145951.2:c.*157_*160del	NP_001139423.1:n.*157_*160del