Canonical Allele Identifier: CA2652141602
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047739-GGCTCCTGGACGGAGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047740_23047754del , CM000682.2:g.23047740_23047754del GRCh38
NC_000020.10:g.23028377_23028391del , CM000682.1:g.23028377_23028391del GRCh37
NC_000020.9:g.22976377_22976391del NCBI36
NG_012027.1:g.6911_6925del , LRG_168:g.6911_6925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*23_*37del MANE Select ENSP00000366307.2:n.*23_*37del
ENST00000377103.2:c.*23_*37del ENSP00000366307.2:n.*23_*37del
NM_000361.2:c.*23_*37del , LRG_168t1:c.*23_*37del NP_000352.1:n.*23_*37del
NM_000361.3:c.*23_*37del MANE Select NP_000352.1:n.*23_*37del
Search 100 bp 5'
Search 100 bp 3'