Canonical Allele Identifier: CA683909221
Gene: TBX5 HGNC NCBI

Linked Data

dbSNP Id: rs1162171565
MyVariant Identifiers: chr12:g.114792184_114792185insA (hg19) chr12:g.114354379_114354380insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114354380dup , CM000674.2:g.114354380dup GRCh38
NC_000012.11:g.114792185dup , CM000674.1:g.114792185dup GRCh37
NC_000012.10:g.113276568dup NCBI36
NG_007373.1:g.59063dup , LRG_670:g.59063dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.*1152dup MANE Select ENSP00000384152.3:n.*1152dup
ENST00000310346.8:c.*1152dup ENSP00000309913.4:n.*1152dup
ENST00000349716.9:c.*1152dup ENSP00000337723.5:n.*1152dup
NM_000192.3:c.*1152dup , LRG_670t1:c.*1152dup NP_000183.2:n.*1152dup
NM_080717.2:c.*1152dup NP_542448.1:n.*1152dup
NM_181486.2:c.*1152dup NP_852259.1:n.*1152dup
XM_017019912.1:c.*1152dup XP_016875401.1:n.*1152dup
NM_080717.3:c.*1152dup NP_542448.1:n.*1152dup
NM_181486.4:c.*1152dup MANE Select NP_852259.1:n.*1152dup
NM_080717.4:c.*1152dup NP_542448.1:n.*1152dup
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