Canonical Allele Identifier: CA2822684994

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348463_101348515del , CM000685.2:g.101348463_101348515del	GRCh38
NC_000023.10:g.100603451_100603503del , CM000685.1:g.100603451_100603503del	GRCh37
NC_000023.9:g.100490107_100490159del	NCBI36
NG_009616.1:g.42711_42763del , LRG_128:g.42711_42763del
NG_011734.1:g.5456_5508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+19_132+71del MANE Select	ENSP00000361993.3:n.132+19_132+71del
ENST00000644112.2:c.132+19_133-61del	ENSP00000494385.1:n.132+19_133-61del
ENST00000645279.1:c.132+19_133-61del	ENSP00000494239.1:n.132+19_133-61del
ENST00000647480.1:n.62_114del
ENST00000372902.3:c.132+19_132+71del	ENSP00000361993.3:n.132+19_132+71del
ENST00000480575.1:n.217+19_218-61del
NM_001145951.1:c.132+19_133-61del	NP_001139423.1:n.132+19_133-61del
NM_004085.3:c.132+19_132+71del	NP_004076.1:n.132+19_132+71del
NM_004085.4:c.132+19_132+71del MANE Select	NP_004076.1:n.132+19_132+71del
NM_001145951.2:c.132+19_133-61del	NP_001139423.1:n.132+19_133-61del