Canonical Allele Identifier: CA2832574361

Gene: THBD

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23048022dup , CM000682.2:g.23048022dup	GRCh38
NC_000020.10:g.23028659dup , CM000682.1:g.23028659dup	GRCh37
NC_000020.9:g.22976659dup	NCBI36
NG_012027.1:g.6647dup , LRG_168:g.6647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1487dup MANE Select	ENSP00000366307.2:p.Pro497AlafsTer?
ENST00000377103.2:c.1487dup	ENSP00000366307.2:p.Pro497AlafsTer?
NM_000361.2:c.1487dup , LRG_168t1:c.1487dup	NP_000352.1:p.Pro497AlafsTer?
NM_000361.3:c.1487dup MANE Select	NP_000352.1:p.Pro497AlafsTer?