Canonical Allele Identifier: CA2694293715
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348478-CAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348479_101348480del , CM000685.2:g.101348479_101348480del GRCh38
NC_000023.10:g.100603467_100603468del , CM000685.1:g.100603467_100603468del GRCh37
NC_000023.9:g.100490123_100490124del NCBI36
NG_009616.1:g.42745_42746del , LRG_128:g.42745_42746del
NG_011734.1:g.5490_5491del

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.132+53_132+54del MANE Select ENSP00000361993.3:n.132+53_132+54del
ENST00000644112.2:c.132+53_132+54del ENSP00000494385.1:n.132+53_132+54del
ENST00000645279.1:c.132+53_132+54del ENSP00000494239.1:n.132+53_132+54del
ENST00000647480.1:n.96_97del
ENST00000372902.3:c.132+53_132+54del ENSP00000361993.3:n.132+53_132+54del
ENST00000480575.1:n.217+53_217+54del
NM_001145951.1:c.132+53_132+54del NP_001139423.1:n.132+53_132+54del
NM_004085.3:c.132+53_132+54del NP_004076.1:n.132+53_132+54del
NM_004085.4:c.132+53_132+54del MANE Select NP_004076.1:n.132+53_132+54del
NM_001145951.2:c.132+53_132+54del NP_001139423.1:n.132+53_132+54del
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