Canonical Allele Identifier: CA2843181871

Gene: THBD

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23048017dup , CM000682.2:g.23048017dup	GRCh38
NC_000020.10:g.23028654dup , CM000682.1:g.23028654dup	GRCh37
NC_000020.9:g.22976654dup	NCBI36
NG_012027.1:g.6648dup , LRG_168:g.6648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1488dup MANE Select	ENSP00000366307.2:p.Pro497AlafsTer?
ENST00000377103.2:c.1488dup	ENSP00000366307.2:p.Pro497AlafsTer?
NM_000361.2:c.1488dup , LRG_168t1:c.1488dup	NP_000352.1:p.Pro497AlafsTer?
NM_000361.3:c.1488dup MANE Select	NP_000352.1:p.Pro497AlafsTer?