Canonical Allele Identifier: CA2448281376

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348351_101348352delinsTC , CM000685.2:g.101348351_101348352delinsTC	GRCh38
NC_000023.10:g.100603339_100603340delinsTC , CM000685.1:g.100603339_100603340delinsTC	GRCh37
NC_000023.9:g.100489995_100489996delinsTC	NCBI36
NG_009616.1:g.42873_42874delinsGA , LRG_128:g.42873_42874delinsGA
NG_011734.1:g.5618_5619delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+181_132+182delinsGA MANE Select	ENSP00000361993.3:n.132+181_132+182delinsGA
ENST00000644112.2:c.*35_*36delinsGA	ENSP00000494385.1:n.*35_*36delinsGA
ENST00000645279.1:c.*35_*36delinsGA	ENSP00000494239.1:n.*35_*36delinsGA
ENST00000647480.1:n.224_225delinsGA
ENST00000372902.3:c.132+181_132+182delinsGA	ENSP00000361993.3:n.132+181_132+182delinsGA
ENST00000480575.1:n.267_268delinsGA
NM_001145951.1:c.*35_*36delinsGA	NP_001139423.1:n.*35_*36delinsGA
NM_004085.3:c.132+181_132+182delinsGA	NP_004076.1:n.132+181_132+182delinsGA
NM_004085.4:c.132+181_132+182delinsGA MANE Select	NP_004076.1:n.132+181_132+182delinsGA
NM_001145951.2:c.*35_*36delinsGA	NP_001139423.1:n.*35_*36delinsGA