Canonical Allele Identifier: CA2448281453

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348548_101348549delinsCA , CM000685.2:g.101348548_101348549delinsCA	GRCh38
NC_000023.10:g.100603536_100603537delinsCA , CM000685.1:g.100603536_100603537delinsCA	GRCh37
NC_000023.9:g.100490192_100490193delinsCA	NCBI36
NG_009616.1:g.42676_42677delinsTG , LRG_128:g.42676_42677delinsTG
NG_011734.1:g.5421_5422delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.116_117delinsTG MANE Select	ENSP00000361993.3:p.Met39=
ENST00000644112.2:c.116_117delinsTG	ENSP00000494385.1:p.Met39=
ENST00000645279.1:c.116_117delinsTG	ENSP00000494239.1:p.Met39=
ENST00000647480.1:n.27_28delinsTG
ENST00000372902.3:c.116_117delinsTG	ENSP00000361993.3:p.Met39=
ENST00000480575.1:n.201_202delinsTG
NM_001145951.1:c.116_117delinsTG	NP_001139423.1:p.Met39=
NM_004085.3:c.116_117delinsTG	NP_004076.1:p.Met39=
NM_004085.4:c.116_117delinsTG MANE Select	NP_004076.1:p.Met39=
NM_001145951.2:c.116_117delinsTG	NP_001139423.1:p.Met39=