Canonical Allele Identifier: CA2694293710
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348473-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348473_101348474insT , CM000685.2:g.101348473_101348474insT GRCh38
NC_000023.10:g.100603461_100603462insT , CM000685.1:g.100603461_100603462insT GRCh37
NC_000023.9:g.100490117_100490118insT NCBI36
NG_009616.1:g.42751_42752insA , LRG_128:g.42751_42752insA
NG_011734.1:g.5496_5497insA

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.132+59_132+60insA MANE Select ENSP00000361993.3:n.132+59_132+60insA
ENST00000644112.2:c.132+59_132+60insA ENSP00000494385.1:n.132+59_132+60insA
ENST00000645279.1:c.132+59_132+60insA ENSP00000494239.1:n.132+59_132+60insA
ENST00000647480.1:n.102_103insA
ENST00000372902.3:c.132+59_132+60insA ENSP00000361993.3:n.132+59_132+60insA
ENST00000480575.1:n.217+59_217+60insA
NM_001145951.1:c.132+59_132+60insA NP_001139423.1:n.132+59_132+60insA
NM_004085.3:c.132+59_132+60insA NP_004076.1:n.132+59_132+60insA
NM_004085.4:c.132+59_132+60insA MANE Select NP_004076.1:n.132+59_132+60insA
NM_001145951.2:c.132+59_132+60insA NP_001139423.1:n.132+59_132+60insA
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