Canonical Allele Identifier: CA2838571077

Gene: THBD

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047887dup , CM000682.2:g.23047887dup	GRCh38
NC_000020.10:g.23028524dup , CM000682.1:g.23028524dup	GRCh37
NC_000020.9:g.22976524dup	NCBI36
NG_012027.1:g.6778dup , LRG_168:g.6778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1618dup MANE Select	ENSP00000366307.2:p.Arg540ProfsTer?
ENST00000377103.2:c.1618dup	ENSP00000366307.2:p.Arg540ProfsTer?
NM_000361.2:c.1618dup , LRG_168t1:c.1618dup	NP_000352.1:p.Arg540ProfsTer?
NM_000361.3:c.1618dup MANE Select	NP_000352.1:p.Arg540ProfsTer?