Canonical Allele Identifier: CA2652141595
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047736_23047738del , CM000682.2:g.23047736_23047738del GRCh38
NC_000020.10:g.23028373_23028375del , CM000682.1:g.23028373_23028375del GRCh37
NC_000020.9:g.22976373_22976375del NCBI36
NG_012027.1:g.6927_6929del , LRG_168:g.6927_6929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*39_*41del MANE Select ENSP00000366307.2:n.*39_*41del
ENST00000377103.2:c.*39_*41del ENSP00000366307.2:n.*39_*41del
NM_000361.2:c.*39_*41del , LRG_168t1:c.*39_*41del NP_000352.1:n.*39_*41del
NM_000361.3:c.*39_*41del MANE Select NP_000352.1:n.*39_*41del