Canonical Allele Identifier: CA2843181869
Gene: THBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048004dup , CM000682.2:g.23048004dup GRCh38
NC_000020.10:g.23028641dup , CM000682.1:g.23028641dup GRCh37
NC_000020.9:g.22976641dup NCBI36
NG_012027.1:g.6663dup , LRG_168:g.6663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1503dup MANE Select ENSP00000366307.2:p.Gly502ArgfsTer?
ENST00000377103.2:c.1503dup ENSP00000366307.2:p.Gly502ArgfsTer?
NM_000361.2:c.1503dup , LRG_168t1:c.1503dup NP_000352.1:p.Gly502ArgfsTer?
NM_000361.3:c.1503dup MANE Select NP_000352.1:p.Gly502ArgfsTer?