Canonical Allele Identifier: CA2579663767

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348554del , CM000685.2:g.101348554del	GRCh38
NC_000023.10:g.100603542del , CM000685.1:g.100603542del	GRCh37
NC_000023.9:g.100490198del	NCBI36
NG_009616.1:g.42672del , LRG_128:g.42672del
NG_011734.1:g.5417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.112del MANE Select	ENSP00000361993.3:p.Gln38ArgfsTer2
ENST00000644112.2:c.112del	ENSP00000494385.1:p.Gln38ArgfsTer2
ENST00000645279.1:c.112del	ENSP00000494239.1:p.Gln38ArgfsTer2
ENST00000647480.1:n.23del
ENST00000372902.3:c.112del	ENSP00000361993.3:p.Gln38ArgfsTer2
ENST00000480575.1:n.197del
NM_001145951.1:c.112del	NP_001139423.1:p.Gln38ArgfsTer2
NM_004085.3:c.112del	NP_004076.1:p.Gln38ArgfsTer2
NM_004085.4:c.112del MANE Select	NP_004076.1:p.Gln38ArgfsTer2
NM_001145951.2:c.112del	NP_001139423.1:p.Gln38ArgfsTer2