Canonical Allele Identifier: CA408404997

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23047810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047810del , CM000682.2:g.23047810del	GRCh38
NC_000020.10:g.23028447del , CM000682.1:g.23028447del	GRCh37
NC_000020.9:g.22976447del	NCBI36
NG_012027.1:g.6855del , LRG_168:g.6855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1695del MANE Select	ENSP00000366307.2:p.His565GlnfsTer?
ENST00000377103.2:c.1695del	ENSP00000366307.2:p.His565GlnfsTer?
NM_000361.2:c.1695del , LRG_168t1:c.1695del	NP_000352.1:p.His565GlnfsTer?
NM_000361.3:c.1695del MANE Select	NP_000352.1:p.His565GlnfsTer?