Canonical Allele Identifier: CA2580098041
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 12716
ClinVar RCV Id: RCV000013553
gnomAD v4: 20-23047816-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047817dup , CM000682.2:g.23047817dup GRCh38
NC_000020.10:g.23028454dup , CM000682.1:g.23028454dup GRCh37
NC_000020.9:g.22976454dup NCBI36
NG_012027.1:g.6848dup , LRG_168:g.6848dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1688dup MANE Select ENSP00000366307.2:p.Gln564AlafsTer?
ENST00000377103.2:c.1688dup ENSP00000366307.2:p.Gln564AlafsTer?
NM_000361.2:c.1688dup , LRG_168t1:c.1688dup NP_000352.1:p.Gln564AlafsTer?
NM_000361.3:c.1688dup MANE Select NP_000352.1:p.Gln564AlafsTer?
Search 100 bp 5'
Search 100 bp 3'