Canonical Allele Identifier: CA658683792
Gene: TBX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114355936dup , CM000674.2:g.114355936dup GRCh38
NC_000012.11:g.114793741dup , CM000674.1:g.114793741dup GRCh37
NC_000012.10:g.113278124dup NCBI36
NG_007373.1:g.57512dup , LRG_670:g.57512dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.1158dup MANE Select ENSP00000384152.3:p.Ser387GlnfsTer?
ENST00000310346.8:c.1158dup ENSP00000309913.4:p.Ser387GlnfsTer?
ENST00000349716.9:c.1008dup ENSP00000337723.5:p.Ser337GlnfsTer?
ENST00000405440.6:c.1158dup ENSP00000384152.2:p.Ser387GlnfsTer?
NM_000192.3:c.1158dup , LRG_670t1:c.1158dup NP_000183.2:p.Ser387GlnfsTer?
NM_080717.2:c.1008dup NP_542448.1:p.Ser337GlnfsTer?
NM_181486.2:c.1158dup NP_852259.1:p.Ser387GlnfsTer?
XM_017019912.1:c.1206dup XP_016875401.1:p.Ser403GlnfsTer?
NM_080717.3:c.1008dup NP_542448.1:p.Ser337GlnfsTer?
NM_181486.4:c.1158dup MANE Select NP_852259.1:p.Ser387GlnfsTer?
NM_080717.4:c.1008dup NP_542448.1:p.Ser337GlnfsTer?
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