Canonical Allele Identifier: CA2694293630

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348429-T-TGGGGGGGGGGGGGGGGGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348430_101348431insGGGGGGGGGGGGGGGGGGTGG , CM000685.2:g.101348430_101348431insGGGGGGGGGGGGGGGGGGTGG	GRCh38
NC_000023.10:g.100603418_100603419insGGGGGGGGGGGGGGGGGGTGG , CM000685.1:g.100603418_100603419insGGGGGGGGGGGGGGGGGGTGG	GRCh37
NC_000023.9:g.100490074_100490075insGGGGGGGGGGGGGGGGGGTGG	NCBI36
NG_009616.1:g.42795_42796insCACCCCCCCCCCCCCCCCCCC , LRG_128:g.42795_42796insCACCCCCCCCCCCCCCCCCCC
NG_011734.1:g.5540_5541insCACCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+103_132+104insCACCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000361993.3:n.132+103_132+104insCACCCCCCCCCCCCCCCCCCC
ENST00000644112.2:c.133-29_133-28insCACCCCCCCCCCCCCCCCCCC	ENSP00000494385.1:n.133-29_133-28insCACCCCCCCCCCCCCCCCCCC
ENST00000645279.1:c.133-29_133-28insCACCCCCCCCCCCCCCCCCCC	ENSP00000494239.1:n.133-29_133-28insCACCCCCCCCCCCCCCCCCCC
ENST00000647480.1:n.146_147insCACCCCCCCCCCCCCCCCCCC
ENST00000372902.3:c.132+103_132+104insCACCCCCCCCCCCCCCCCCCC	ENSP00000361993.3:n.132+103_132+104insCACCCCCCCCCCCCCCCCCCC
ENST00000480575.1:n.218-29_218-28insCACCCCCCCCCCCCCCCCCCC
NM_001145951.1:c.133-29_133-28insCACCCCCCCCCCCCCCCCCCC	NP_001139423.1:n.133-29_133-28insCACCCCCCCCCCCCCCCCCCC
NM_004085.3:c.132+103_132+104insCACCCCCCCCCCCCCCCCCCC	NP_004076.1:n.132+103_132+104insCACCCCCCCCCCCCCCCCCCC
NM_004085.4:c.132+103_132+104insCACCCCCCCCCCCCCCCCCCC MANE Select	NP_004076.1:n.132+103_132+104insCACCCCCCCCCCCCCCCCCCC
NM_001145951.2:c.133-29_133-28insCACCCCCCCCCCCCCCCCCCC	NP_001139423.1:n.133-29_133-28insCACCCCCCCCCCCCCCCCCCC