Canonical Allele Identifier: CA2355680734
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984611500
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047802_23047810dup , CM000682.2:g.23047802_23047810dup GRCh38
NC_000020.10:g.23028439_23028447dup , CM000682.1:g.23028439_23028447dup GRCh37
NC_000020.9:g.22976439_22976447dup NCBI36
NG_012027.1:g.6857_6865dup , LRG_168:g.6857_6865dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1697_1705dup MANE Select ENSP00000366307.2:p.Thr568_Glu569insValArgThr
ENST00000377103.2:c.1697_1705dup ENSP00000366307.2:p.Thr568_Glu569insValArgThr
NM_000361.2:c.1697_1705dup , LRG_168t1:c.1697_1705dup NP_000352.1:p.Thr568_Glu569insValArgThr
NM_000361.3:c.1697_1705dup MANE Select NP_000352.1:p.Thr568_Glu569insValArgThr
Search 100 bp 5'
Search 100 bp 3'