Canonical Allele Identifier: CA2448281346

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348242_101348250delinsACTAGGCAG , CM000685.2:g.101348242_101348250delinsACTAGGCAG	GRCh38
NC_000023.10:g.100603230_100603238delinsACTAGGCAG , CM000685.1:g.100603230_100603238delinsACTAGGCAG	GRCh37
NC_000023.9:g.100489886_100489894delinsACTAGGCAG	NCBI36
NG_009616.1:g.42975_42983delinsCTGCCTAGT , LRG_128:g.42975_42983delinsCTGCCTAGT
NG_011734.1:g.5720_5728delinsCTGCCTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+283_132+291delinsCTGCCTAGT MANE Select	ENSP00000361993.3:n.132+283_132+291delinsCTGCCTAGT
ENST00000644112.2:c.*137_*145delinsCTGCCTAGT	ENSP00000494385.1:n.*137_*145delinsCTGCCTAGT
ENST00000645279.1:c.*137_*145delinsCTGCCTAGT	ENSP00000494239.1:n.*137_*145delinsCTGCCTAGT
ENST00000647480.1:n.326_334delinsCTGCCTAGT
ENST00000372902.3:c.132+283_132+291delinsCTGCCTAGT	ENSP00000361993.3:n.132+283_132+291delinsCTGCCTAGT
ENST00000480575.1:n.369_377delinsCTGCCTAGT
NM_001145951.1:c.*137_*145delinsCTGCCTAGT	NP_001139423.1:n.*137_*145delinsCTGCCTAGT
NM_004085.3:c.132+283_132+291delinsCTGCCTAGT	NP_004076.1:n.132+283_132+291delinsCTGCCTAGT
NM_004085.4:c.132+283_132+291delinsCTGCCTAGT MANE Select	NP_004076.1:n.132+283_132+291delinsCTGCCTAGT
NM_001145951.2:c.*137_*145delinsCTGCCTAGT	NP_001139423.1:n.*137_*145delinsCTGCCTAGT