Canonical Allele Identifier: CA2355679990
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23046225_23046227delinsCCT , CM000682.2:g.23046225_23046227delinsCCT GRCh38
NC_000020.10:g.23026862_23026864delinsCCT , CM000682.1:g.23026862_23026864delinsCCT GRCh37
NC_000020.9:g.22974862_22974864delinsCCT NCBI36
NG_012027.1:g.8438_8440delinsAGG , LRG_168:g.8438_8440delinsAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.*1550_*1552delinsAGG MANE Select ENSP00000366307.2:n.*1550_*1552delinsAGG
ENST00000377103.2:c.*1550_*1552delinsAGG ENSP00000366307.2:n.*1550_*1552delinsAGG
NM_000361.2:c.*1550_*1552delinsAGG , LRG_168t1:c.*1550_*1552delinsAGG NP_000352.1:n.*1550_*1552delinsAGG
NM_000361.3:c.*1550_*1552delinsAGG MANE Select NP_000352.1:n.*1550_*1552delinsAGG
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