Canonical Allele Identifier: CA2652141675
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23049378-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049382del , CM000682.2:g.23049382del GRCh38
NC_000020.10:g.23030019del , CM000682.1:g.23030019del GRCh37
NC_000020.9:g.22978019del NCBI36
NG_012027.1:g.5286del , LRG_168:g.5286del

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.126del MANE Select ENSP00000366307.2:p.Ala43ArgfsTer17
ENST00000377103.2:c.126del ENSP00000366307.2:p.Ala43ArgfsTer17
NM_000361.2:c.126del , LRG_168t1:c.126del NP_000352.1:p.Ala43ArgfsTer17
NM_000361.3:c.126del MANE Select NP_000352.1:p.Ala43ArgfsTer17
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Search 100 bp 3'