Canonical Allele Identifier: CA2573055046

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 1185085
• ClinVar RCV Id: RCV001822907
• dbSNP Id: rs2147418146

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348598_101348599del , CM000685.2:g.101348598_101348599del	GRCh38
NC_000023.10:g.100603586_100603587del , CM000685.1:g.100603586_100603587del	GRCh37
NC_000023.9:g.100490242_100490243del	NCBI36
NG_009616.1:g.42626_42627del , LRG_128:g.42626_42627del
NG_011734.1:g.5371_5372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.66_67del MANE Select	ENSP00000361993.3:p.Ile23ArgfsTer18
ENST00000644112.2:c.66_67del	ENSP00000494385.1:p.Ile23ArgfsTer18
ENST00000645279.1:c.66_67del	ENSP00000494239.1:p.Ile23ArgfsTer18
ENST00000372902.3:c.66_67del	ENSP00000361993.3:p.Ile23ArgfsTer18
ENST00000480575.1:n.151_152del
NM_001145951.1:c.66_67del	NP_001139423.1:p.Ile23ArgfsTer18
NM_004085.3:c.66_67del	NP_004076.1:p.Ile23ArgfsTer18
NM_004085.4:c.66_67del MANE Select	NP_004076.1:p.Ile23ArgfsTer18
NM_001145951.2:c.66_67del	NP_001139423.1:p.Ile23ArgfsTer18