Canonical Allele Identifier: CA2531179357

Gene: TIMM8A

Linked Data

• gnomAD v3: X-101348425-C-CCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
• gnomAD v4: X-101348425-C-CCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348425_101348426insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000685.2:g.101348425_101348426insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000023.10:g.100603413_100603414insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000685.1:g.100603413_100603414insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000023.9:g.100490069_100490070insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009616.1:g.42799_42800insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG , LRG_128:g.42799_42800insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
NG_011734.1:g.5544_5545insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000361993.3:n.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000644112.2:c.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000494385.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000645279.1:c.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000494239.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000647480.1:n.150_151insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
ENST00000372902.3:c.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000361993.3:n.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000480575.1:n.218-25_218-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
NM_001145951.1:c.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_001139423.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_004085.3:c.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_004076.1:n.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_004085.4:c.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_004076.1:n.132+107_132+108insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001145951.2:c.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_001139423.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCCCCCCCCCCC...