Canonical Allele Identifier: CA2448281450

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348537_101348538delinsCA , CM000685.2:g.101348537_101348538delinsCA	GRCh38
NC_000023.10:g.100603525_100603526delinsCA , CM000685.1:g.100603525_100603526delinsCA	GRCh37
NC_000023.9:g.100490181_100490182delinsCA	NCBI36
NG_009616.1:g.42687_42688delinsTG , LRG_128:g.42687_42688delinsTG
NG_011734.1:g.5432_5433delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.127_128delinsTG MANE Select	ENSP00000361993.3:p.Cys43=
ENST00000644112.2:c.127_128delinsTG	ENSP00000494385.1:p.Cys43=
ENST00000645279.1:c.127_128delinsTG	ENSP00000494239.1:p.Cys43=
ENST00000647480.1:n.38_39delinsTG
ENST00000372902.3:c.127_128delinsTG	ENSP00000361993.3:p.Cys43=
ENST00000480575.1:n.212_213delinsTG
NM_001145951.1:c.127_128delinsTG	NP_001139423.1:p.Cys43=
NM_004085.3:c.127_128delinsTG	NP_004076.1:p.Cys43=
NM_004085.4:c.127_128delinsTG MANE Select	NP_004076.1:p.Cys43=
NM_001145951.2:c.127_128delinsTG	NP_001139423.1:p.Cys43=