Canonical Allele Identifier: CA2652141634

Gene: THBD

Linked Data

• gnomAD v4: 20-23047795-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047797_23047798del , CM000682.2:g.23047797_23047798del	GRCh38
NC_000020.10:g.23028434_23028435del , CM000682.1:g.23028434_23028435del	GRCh37
NC_000020.9:g.22976434_22976435del	NCBI36
NG_012027.1:g.6868_6869del , LRG_168:g.6868_6869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1708_1709del MANE Select	ENSP00000366307.2:p.Arg570AspfsTer?
ENST00000377103.2:c.1708_1709del	ENSP00000366307.2:p.Arg570AspfsTer?
NM_000361.2:c.1708_1709del , LRG_168t1:c.1708_1709del	NP_000352.1:p.Arg570AspfsTer?
NM_000361.3:c.1708_1709del MANE Select	NP_000352.1:p.Arg570AspfsTer?