Canonical Allele Identifier: CA10632062
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 307269
ClinVar RCV Id: RCV000405964
dbSNP Id: rs35534655
gnomAD v2: 12-114791951-GA-G
gnomAD v3: 12-114354146-GA-G
gnomAD v4: 12-114354146-GA-G
COSMIC: COSN20110153 COSN20110154 COSN20110155 COSN20110156 COSN20110157 COSN20110158
MyVariant Identifiers: chr12:g.114791953del (hg19) chr12:g.114791952del (hg19) chr12:g.114354148del (hg38) chr12:g.114354147del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114354156del , CM000674.2:g.114354156del GRCh38
NC_000012.11:g.114791961del , CM000674.1:g.114791961del GRCh37
NC_000012.10:g.113276344del NCBI36
NG_007373.1:g.59296del , LRG_670:g.59296del

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*1385del MANE Select ENSP00000384152.3:n.*1385del
ENST00000310346.8:c.*1385del ENSP00000309913.4:n.*1385del
ENST00000349716.9:c.*1385del ENSP00000337723.5:n.*1385del
NM_000192.3:c.*1385del , LRG_670t1:c.*1385del NP_000183.2:n.*1385del
NM_080717.2:c.*1385del NP_542448.1:n.*1385del
NM_181486.2:c.*1385del NP_852259.1:n.*1385del
XM_017019912.1:c.*1385del XP_016875401.1:n.*1385del
NM_080717.3:c.*1385del NP_542448.1:n.*1385del
NM_181486.4:c.*1385del MANE Select NP_852259.1:n.*1385del
NM_080717.4:c.*1385del NP_542448.1:n.*1385del
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