Canonical Allele Identifier: CA2694291956

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348144-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348146del , CM000685.2:g.101348146del	GRCh38
NC_000023.10:g.100603134del , CM000685.1:g.100603134del	GRCh37
NC_000023.9:g.100489790del	NCBI36
NG_009616.1:g.43080del , LRG_128:g.43080del
NG_011734.1:g.5825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+388del MANE Select	ENSP00000361993.3:n.132+388del
ENST00000644112.2:c.*242del	ENSP00000494385.1:n.*242del
ENST00000645279.1:c.*242del	ENSP00000494239.1:n.*242del
ENST00000647480.1:n.431del
ENST00000372902.3:c.132+388del	ENSP00000361993.3:n.132+388del
ENST00000480575.1:n.474del
NM_001145951.1:c.*242del	NP_001139423.1:n.*242del
NM_004085.3:c.132+388del	NP_004076.1:n.132+388del
NM_004085.4:c.132+388del MANE Select	NP_004076.1:n.132+388del
NM_001145951.2:c.*242del	NP_001139423.1:n.*242del