Canonical Allele Identifier: CA645372264
Gene: TIMM8A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346499_101346660del , CM000685.2:g.101346499_101346660del GRCh38
NC_000023.10:g.100601487_100601648del , CM000685.1:g.100601487_100601648del GRCh37
NC_000023.9:g.100488143_100488304del NCBI36
NG_011734.1:g.7310_7471del

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.133_294del MANE Select ENSP00000361993.3:p.Glu45_Ter98del
ENST00000644112.2:c.*1727_*1888del ENSP00000494385.1:n.*1727_*1888del
ENST00000645279.1:c.*327_*488del ENSP00000494239.1:n.*327_*488del
ENST00000647480.1:n.650_811del
ENST00000372902.3:c.133_294del ENSP00000361993.3:p.Glu45_Ter98del
NM_004085.3:c.133_294del NP_004076.1:p.Glu45_Ter98del
NM_004085.4:c.133_294del MANE Select NP_004076.1:p.Glu45_Ter98del
NM_001145951.2:c.*1727_*1888del NP_001139423.1:n.*1727_*1888del
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