Canonical Allele Identifier: CA2579663742

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348429-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348434_101348437del , CM000685.2:g.101348434_101348437del	GRCh38
NC_000023.10:g.100603422_100603425del , CM000685.1:g.100603422_100603425del	GRCh37
NC_000023.9:g.100490078_100490081del	NCBI36
NG_009616.1:g.42792_42795del , LRG_128:g.42792_42795del
NG_011734.1:g.5537_5540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+100_132+103del MANE Select	ENSP00000361993.3:n.132+100_132+103del
ENST00000644112.2:c.133-32_133-29del	ENSP00000494385.1:n.133-32_133-29del
ENST00000645279.1:c.133-32_133-29del	ENSP00000494239.1:n.133-32_133-29del
ENST00000647480.1:n.143_146del
ENST00000372902.3:c.132+100_132+103del	ENSP00000361993.3:n.132+100_132+103del
ENST00000480575.1:n.218-32_218-29del
NM_001145951.1:c.133-32_133-29del	NP_001139423.1:n.133-32_133-29del
NM_004085.3:c.132+100_132+103del	NP_004076.1:n.132+100_132+103del
NM_004085.4:c.132+100_132+103del MANE Select	NP_004076.1:n.132+100_132+103del
NM_001145951.2:c.133-32_133-29del	NP_001139423.1:n.133-32_133-29del