Canonical Allele Identifier: CA2822684792
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348367_101348372del , CM000685.2:g.101348367_101348372del GRCh38
NC_000023.10:g.100603355_100603360del , CM000685.1:g.100603355_100603360del GRCh37
NC_000023.9:g.100490011_100490016del NCBI36
NG_009616.1:g.42853_42858del , LRG_128:g.42853_42858del
NG_011734.1:g.5598_5603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+161_132+166del MANE Select ENSP00000361993.3:n.132+161_132+166del
ENST00000644112.2:c.*15_*20del ENSP00000494385.1:n.*15_*20del
ENST00000645279.1:c.*15_*20del ENSP00000494239.1:n.*15_*20del
ENST00000647480.1:n.204_209del
ENST00000372902.3:c.132+161_132+166del ENSP00000361993.3:n.132+161_132+166del
ENST00000480575.1:n.247_252del
NM_001145951.1:c.*15_*20del NP_001139423.1:n.*15_*20del
NM_004085.3:c.132+161_132+166del NP_004076.1:n.132+161_132+166del
NM_004085.4:c.132+161_132+166del MANE Select NP_004076.1:n.132+161_132+166del
NM_001145951.2:c.*15_*20del NP_001139423.1:n.*15_*20del