Canonical Allele Identifier: CA2694293048

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348425-C-CCGGGGGGGGGGGGGGGGGGGGGTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348425_101348426insCGGGGGGGGGGGGGGGGGGGGGTGGGGGG , CM000685.2:g.101348425_101348426insCGGGGGGGGGGGGGGGGGGGGGTGGGGGG	GRCh38
NC_000023.10:g.100603413_100603414insCGGGGGGGGGGGGGGGGGGGGGTGGGGGG , CM000685.1:g.100603413_100603414insCGGGGGGGGGGGGGGGGGGGGGTGGGGGG	GRCh37
NC_000023.9:g.100490069_100490070insCGGGGGGGGGGGGGGGGGGGGGTGGGGGG	NCBI36
NG_009616.1:g.42799_42800insCCCCCCACCCCCCCCCCCCCCCCCCCCCG , LRG_128:g.42799_42800insCCCCCCACCCCCCCCCCCCCCCCCCCCCG
NG_011734.1:g.5544_5545insCCCCCCACCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000361993.3:n.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCC...
ENST00000644112.2:c.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	ENSP00000494385.1:n.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCC...
ENST00000645279.1:c.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	ENSP00000494239.1:n.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCC...
ENST00000647480.1:n.150_151insCCCCCCACCCCCCCCCCCCCCCCCCCCCG
ENST00000372902.3:c.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	ENSP00000361993.3:n.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCC...
ENST00000480575.1:n.218-25_218-24insCCCCCCACCCCCCCCCCCCCCCCCCCCCG
NM_001145951.1:c.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	NP_001139423.1:n.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCC...
NM_004085.3:c.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	NP_004076.1:n.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG...
NM_004085.4:c.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_004076.1:n.132+107_132+108insCCCCCCACCCCCCCCCCCCCCCCCCCCCG...
NM_001145951.2:c.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCCG	NP_001139423.1:n.133-25_133-24insCCCCCCACCCCCCCCCCCCCCCCCCCCC...