Canonical Allele Identifier: CA2694293616

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348426-A-AGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348428_101348429insGGGGG , CM000685.2:g.101348428_101348429insGGGGG	GRCh38
NC_000023.10:g.100603416_100603417insGGGGG , CM000685.1:g.100603416_100603417insGGGGG	GRCh37
NC_000023.9:g.100490072_100490073insGGGGG	NCBI36
NG_009616.1:g.42798_42799insCCCCC , LRG_128:g.42798_42799insCCCCC
NG_011734.1:g.5543_5544insCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+106_132+107insCCCCC MANE Select	ENSP00000361993.3:n.132+106_132+107insCCCCC
ENST00000644112.2:c.133-26_133-25insCCCCC	ENSP00000494385.1:n.133-26_133-25insCCCCC
ENST00000645279.1:c.133-26_133-25insCCCCC	ENSP00000494239.1:n.133-26_133-25insCCCCC
ENST00000647480.1:n.149_150insCCCCC
ENST00000372902.3:c.132+106_132+107insCCCCC	ENSP00000361993.3:n.132+106_132+107insCCCCC
ENST00000480575.1:n.218-26_218-25insCCCCC
NM_001145951.1:c.133-26_133-25insCCCCC	NP_001139423.1:n.133-26_133-25insCCCCC
NM_004085.3:c.132+106_132+107insCCCCC	NP_004076.1:n.132+106_132+107insCCCCC
NM_004085.4:c.132+106_132+107insCCCCC MANE Select	NP_004076.1:n.132+106_132+107insCCCCC
NM_001145951.2:c.133-26_133-25insCCCCC	NP_001139423.1:n.133-26_133-25insCCCCC