Canonical Allele Identifier: CA2448281335

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348202_101348203delinsAT , CM000685.2:g.101348202_101348203delinsAT	GRCh38
NC_000023.10:g.100603190_100603191delinsAT , CM000685.1:g.100603190_100603191delinsAT	GRCh37
NC_000023.9:g.100489846_100489847delinsAT	NCBI36
NG_009616.1:g.43022_43023delinsAT , LRG_128:g.43022_43023delinsAT
NG_011734.1:g.5767_5768delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+330_132+331delinsAT MANE Select	ENSP00000361993.3:n.132+330_132+331delinsAT
ENST00000644112.2:c.*184_*185delinsAT	ENSP00000494385.1:n.*184_*185delinsAT
ENST00000645279.1:c.*184_*185delinsAT	ENSP00000494239.1:n.*184_*185delinsAT
ENST00000647480.1:n.373_374delinsAT
ENST00000372902.3:c.132+330_132+331delinsAT	ENSP00000361993.3:n.132+330_132+331delinsAT
ENST00000480575.1:n.416_417delinsAT
NM_001145951.1:c.*184_*185delinsAT	NP_001139423.1:n.*184_*185delinsAT
NM_004085.3:c.132+330_132+331delinsAT	NP_004076.1:n.132+330_132+331delinsAT
NM_004085.4:c.132+330_132+331delinsAT MANE Select	NP_004076.1:n.132+330_132+331delinsAT
NM_001145951.2:c.*184_*185delinsAT	NP_001139423.1:n.*184_*185delinsAT