Canonical Allele Identifier: CA2822684996
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348463_101348465del , CM000685.2:g.101348463_101348465del GRCh38
NC_000023.10:g.100603451_100603453del , CM000685.1:g.100603451_100603453del GRCh37
NC_000023.9:g.100490107_100490109del NCBI36
NG_009616.1:g.42760_42762del , LRG_128:g.42760_42762del
NG_011734.1:g.5505_5507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+68_132+70del MANE Select ENSP00000361993.3:n.132+68_132+70del
ENST00000644112.2:c.133-64_133-62del ENSP00000494385.1:n.133-64_133-62del
ENST00000645279.1:c.133-64_133-62del ENSP00000494239.1:n.133-64_133-62del
ENST00000647480.1:n.111_113del
ENST00000372902.3:c.132+68_132+70del ENSP00000361993.3:n.132+68_132+70del
ENST00000480575.1:n.218-64_218-62del
NM_001145951.1:c.133-64_133-62del NP_001139423.1:n.133-64_133-62del
NM_004085.3:c.132+68_132+70del NP_004076.1:n.132+68_132+70del
NM_004085.4:c.132+68_132+70del MANE Select NP_004076.1:n.132+68_132+70del
NM_001145951.2:c.133-64_133-62del NP_001139423.1:n.133-64_133-62del