Canonical Allele Identifier: CA510160415
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 2842952
ClinVar RCV Id: RCV003723710
dbSNP Id: rs1267742152
gnomAD v2: 20-23028445-AC-A
gnomAD v3: 20-23047808-AC-A
gnomAD v4: 20-23047808-AC-A
MyVariant Identifiers: chr20:g.23028446del (hg19) chr20:g.23047809del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047809del , CM000682.2:g.23047809del GRCh38
NC_000020.10:g.23028446del , CM000682.1:g.23028446del GRCh37
NC_000020.9:g.22976446del NCBI36
NG_012027.1:g.6856del , LRG_168:g.6856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1696del MANE Select ENSP00000366307.2:p.Val566CysfsTer?
ENST00000377103.2:c.1696del ENSP00000366307.2:p.Val566CysfsTer?
NM_000361.2:c.1696del , LRG_168t1:c.1696del NP_000352.1:p.Val566CysfsTer?
NM_000361.3:c.1696del MANE Select NP_000352.1:p.Val566CysfsTer?
Search 100 bp 5'
Search 100 bp 3'