Canonical Allele Identifier: CA2652141633

Gene: THBD

Linked Data

• gnomAD v4: 20-23047794-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047796del , CM000682.2:g.23047796del	GRCh38
NC_000020.10:g.23028433del , CM000682.1:g.23028433del	GRCh37
NC_000020.9:g.22976433del	NCBI36
NG_012027.1:g.6870del , LRG_168:g.6870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1710del MANE Select	ENSP00000366307.2:p.Thr571ArgfsTer?
ENST00000377103.2:c.1710del	ENSP00000366307.2:p.Thr571ArgfsTer?
NM_000361.2:c.1710del , LRG_168t1:c.1710del	NP_000352.1:p.Thr571ArgfsTer?
NM_000361.3:c.1710del MANE Select	NP_000352.1:p.Thr571ArgfsTer?