Canonical Allele Identifier: CA2355681499
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984676158
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049290del , CM000682.2:g.23049290del GRCh38
NC_000020.10:g.23029927del , CM000682.1:g.23029927del GRCh37
NC_000020.9:g.22977927del NCBI36
NG_012027.1:g.5376del , LRG_168:g.5376del

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.216del MANE Select ENSP00000366307.2:p.Leu73CysfsTer3
ENST00000377103.2:c.216del ENSP00000366307.2:p.Leu73CysfsTer3
NM_000361.2:c.216del , LRG_168t1:c.216del NP_000352.1:p.Leu73CysfsTer3
NM_000361.3:c.216del MANE Select NP_000352.1:p.Leu73CysfsTer3
Search 100 bp 5'
Search 100 bp 3'