Canonical Allele Identifier: CA2822685005
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348473del , CM000685.2:g.101348473del GRCh38
NC_000023.10:g.100603461del , CM000685.1:g.100603461del GRCh37
NC_000023.9:g.100490117del NCBI36
NG_009616.1:g.42752del , LRG_128:g.42752del
NG_011734.1:g.5497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+60del MANE Select ENSP00000361993.3:n.132+60del
ENST00000644112.2:c.132+60del ENSP00000494385.1:n.132+60del
ENST00000645279.1:c.132+60del ENSP00000494239.1:n.132+60del
ENST00000647480.1:n.103del
ENST00000372902.3:c.132+60del ENSP00000361993.3:n.132+60del
ENST00000480575.1:n.217+60del
NM_001145951.1:c.132+60del NP_001139423.1:n.132+60del
NM_004085.3:c.132+60del NP_004076.1:n.132+60del
NM_004085.4:c.132+60del MANE Select NP_004076.1:n.132+60del
NM_001145951.2:c.132+60del NP_001139423.1:n.132+60del