Canonical Allele Identifier: CA9787787
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs751517364
ExAC: 20:23030005 AGGAAGGTCGCGGGGCCCG / A
gnomAD v2: 20-23030005-AGGAAGGTCGCGGGGCCCG-A
gnomAD v3: 20-23049368-AGGAAGGTCGCGGGGCCCG-A
gnomAD v4: 20-23049368-AGGAAGGTCGCGGGGCCCG-A
MyVariant Identifiers: chr20:g.23030006_23030023del (hg19) chr20:g.23049369_23049386del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049371_23049388del , CM000682.2:g.23049371_23049388del GRCh38
NC_000020.10:g.23030008_23030025del , CM000682.1:g.23030008_23030025del GRCh37
NC_000020.9:g.22978008_22978025del NCBI36
NG_012027.1:g.5279_5296del , LRG_168:g.5279_5296del

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.119_136del MANE Select ENSP00000366307.2:p.Pro40_Phe45del
ENST00000377103.2:c.119_136del ENSP00000366307.2:p.Pro40_Phe45del
NM_000361.2:c.119_136del , LRG_168t1:c.119_136del NP_000352.1:p.Pro40_Phe45del
NM_000361.3:c.119_136del MANE Select NP_000352.1:p.Pro40_Phe45del
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