Canonical Allele Identifier: CA2822684979

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348450_101348454del , CM000685.2:g.101348450_101348454del	GRCh38
NC_000023.10:g.100603438_100603442del , CM000685.1:g.100603438_100603442del	GRCh37
NC_000023.9:g.100490094_100490098del	NCBI36
NG_009616.1:g.42771_42775del , LRG_128:g.42771_42775del
NG_011734.1:g.5516_5520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+79_132+83del MANE Select	ENSP00000361993.3:n.132+79_132+83del
ENST00000644112.2:c.133-53_133-49del	ENSP00000494385.1:n.133-53_133-49del
ENST00000645279.1:c.133-53_133-49del	ENSP00000494239.1:n.133-53_133-49del
ENST00000647480.1:n.122_126del
ENST00000372902.3:c.132+79_132+83del	ENSP00000361993.3:n.132+79_132+83del
ENST00000480575.1:n.218-53_218-49del
NM_001145951.1:c.133-53_133-49del	NP_001139423.1:n.133-53_133-49del
NM_004085.3:c.132+79_132+83del	NP_004076.1:n.132+79_132+83del
NM_004085.4:c.132+79_132+83del MANE Select	NP_004076.1:n.132+79_132+83del
NM_001145951.2:c.133-53_133-49del	NP_001139423.1:n.133-53_133-49del