Canonical Allele Identifier: CA658796918
Gene: TBX20 HGNC NCBI

Linked Data

ClinVar Variation Id: 438266
ClinVar RCV Id: RCV000656080 RCV000656081 RCV000656082
dbSNP Id: rs1554284604
MyVariant Identifiers: chr7:g.35244090del (hg19) chr7:g.35204478del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.35204481del , CM000669.2:g.35204481del GRCh38
NC_000007.13:g.35244093del , CM000669.1:g.35244093del GRCh37
NC_000007.12:g.35210618del NCBI36
NG_015805.1:g.54622del , LRG_755:g.54622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408931.4:c.995del MANE Select ENSP00000386170.3:p.Pro332GlnfsTer?
ENST00000408931.3:c.995del ENSP00000386170.3:p.Pro332GlnfsTer?
NM_001077653.2:c.995del , LRG_755t1:c.995del MANE Select NP_001071121.1:p.Pro332GlnfsTer?
XM_017012456.1:c.398del XP_016867945.1:p.Pro133GlnfsTer?
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