Canonical Allele Identifier: CA2843181868
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047997del , CM000682.2:g.23047997del GRCh38
NC_000020.10:g.23028634del , CM000682.1:g.23028634del GRCh37
NC_000020.9:g.22976634del NCBI36
NG_012027.1:g.6669del , LRG_168:g.6669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1509del MANE Select ENSP00000366307.2:p.Thr504ProfsTer2
ENST00000377103.2:c.1509del ENSP00000366307.2:p.Thr504ProfsTer2
NM_000361.2:c.1509del , LRG_168t1:c.1509del NP_000352.1:p.Thr504ProfsTer2
NM_000361.3:c.1509del MANE Select NP_000352.1:p.Thr504ProfsTer2
Search 100 bp 5'
Search 100 bp 3'