Canonical Allele Identifier: CA2448281465

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348591_101348592delinsAC , CM000685.2:g.101348591_101348592delinsAC	GRCh38
NC_000023.10:g.100603579_100603580delinsAC , CM000685.1:g.100603579_100603580delinsAC	GRCh37
NC_000023.9:g.100490235_100490236delinsAC	NCBI36
NG_009616.1:g.42633_42634delinsGT , LRG_128:g.42633_42634delinsGT
NG_011734.1:g.5378_5379delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.73_74delinsGT MANE Select	ENSP00000361993.3:p.Val25=
ENST00000644112.2:c.73_74delinsGT	ENSP00000494385.1:p.Val25=
ENST00000645279.1:c.73_74delinsGT	ENSP00000494239.1:p.Val25=
ENST00000372902.3:c.73_74delinsGT	ENSP00000361993.3:p.Val25=
ENST00000480575.1:n.158_159delinsGT
NM_001145951.1:c.73_74delinsGT	NP_001139423.1:p.Val25=
NM_004085.3:c.73_74delinsGT	NP_004076.1:p.Val25=
NM_004085.4:c.73_74delinsGT MANE Select	NP_004076.1:p.Val25=
NM_001145951.2:c.73_74delinsGT	NP_001139423.1:p.Val25=