Canonical Allele Identifier: CA2694292033

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348260-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348263del , CM000685.2:g.101348263del	GRCh38
NC_000023.10:g.100603251del , CM000685.1:g.100603251del	GRCh37
NC_000023.9:g.100489907del	NCBI36
NG_009616.1:g.42964del , LRG_128:g.42964del
NG_011734.1:g.5709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+272del MANE Select	ENSP00000361993.3:n.132+272del
ENST00000644112.2:c.*126del	ENSP00000494385.1:n.*126del
ENST00000645279.1:c.*126del	ENSP00000494239.1:n.*126del
ENST00000647480.1:n.315del
ENST00000372902.3:c.132+272del	ENSP00000361993.3:n.132+272del
ENST00000480575.1:n.358del
NM_001145951.1:c.*126del	NP_001139423.1:n.*126del
NM_004085.3:c.132+272del	NP_004076.1:n.132+272del
NM_004085.4:c.132+272del MANE Select	NP_004076.1:n.132+272del
NM_001145951.2:c.*126del	NP_001139423.1:n.*126del