Canonical Allele Identifier: CA2448280841
Gene: TIMM8A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346635_101346645delinsGGCCCAGGCTT , CM000685.2:g.101346635_101346645delinsGGCCCAGGCTT GRCh38
NC_000023.10:g.100601623_100601633delinsGGCCCAGGCTT , CM000685.1:g.100601623_100601633delinsGGCCCAGGCTT GRCh37
NC_000023.9:g.100488279_100488289delinsGGCCCAGGCTT NCBI36
NG_011734.1:g.7325_7335delinsAAGCCTGGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.148_158delinsAAGCCTGGGCC MANE Select ENSP00000361993.3:p.Lys50=
ENST00000644112.2:c.*1742_*1752delinsAAGCCTGGGCC ENSP00000494385.1:n.*1742_*1752delinsAAGCCTGGGCC
ENST00000645279.1:c.*342_*352delinsAAGCCTGGGCC ENSP00000494239.1:n.*342_*352delinsAAGCCTGGGCC
ENST00000647480.1:n.665_675delinsAAGCCTGGGCC
ENST00000372902.3:c.148_158delinsAAGCCTGGGCC ENSP00000361993.3:p.Lys50=
NM_004085.3:c.148_158delinsAAGCCTGGGCC NP_004076.1:p.Lys50=
NM_004085.4:c.148_158delinsAAGCCTGGGCC MANE Select NP_004076.1:p.Lys50=
NM_001145951.2:c.*1742_*1752delinsAAGCCTGGGCC NP_001139423.1:n.*1742_*1752delinsAAGCCTGGGCC
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