Canonical Allele Identifier: CA2694292084

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348355-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348359_101348360del , CM000685.2:g.101348359_101348360del	GRCh38
NC_000023.10:g.100603347_100603348del , CM000685.1:g.100603347_100603348del	GRCh37
NC_000023.9:g.100490003_100490004del	NCBI36
NG_009616.1:g.42868_42869del , LRG_128:g.42868_42869del
NG_011734.1:g.5613_5614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+176_132+177del MANE Select	ENSP00000361993.3:n.132+176_132+177del
ENST00000644112.2:c.*30_*31del	ENSP00000494385.1:n.*30_*31del
ENST00000645279.1:c.*30_*31del	ENSP00000494239.1:n.*30_*31del
ENST00000647480.1:n.219_220del
ENST00000372902.3:c.132+176_132+177del	ENSP00000361993.3:n.132+176_132+177del
ENST00000480575.1:n.262_263del
NM_001145951.1:c.*30_*31del	NP_001139423.1:n.*30_*31del
NM_004085.3:c.132+176_132+177del	NP_004076.1:n.132+176_132+177del
NM_004085.4:c.132+176_132+177del MANE Select	NP_004076.1:n.132+176_132+177del
NM_001145951.2:c.*30_*31del	NP_001139423.1:n.*30_*31del