Canonical Allele Identifier: CA742233521

Gene: THBD

Linked Data

• dbSNP Id: rs1220204421
• MyVariant Identifiers: chr20:g.23028437del (hg19) ; chr20:g.23047800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047800del , CM000682.2:g.23047800del	GRCh38
NC_000020.10:g.23028437del , CM000682.1:g.23028437del	GRCh37
NC_000020.9:g.22976437del	NCBI36
NG_012027.1:g.6865del , LRG_168:g.6865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1705del MANE Select	ENSP00000366307.2:p.Glu569SerfsTer?
ENST00000377103.2:c.1705del	ENSP00000366307.2:p.Glu569SerfsTer?
NM_000361.2:c.1705del , LRG_168t1:c.1705del	NP_000352.1:p.Glu569SerfsTer?
NM_000361.3:c.1705del MANE Select	NP_000352.1:p.Glu569SerfsTer?