Canonical Allele Identifier: CA2355680740
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047808_23047809delinsAC , CM000682.2:g.23047808_23047809delinsAC GRCh38
NC_000020.10:g.23028445_23028446delinsAC , CM000682.1:g.23028445_23028446delinsAC GRCh37
NC_000020.9:g.22976445_22976446delinsAC NCBI36
NG_012027.1:g.6856_6857delinsGT , LRG_168:g.6856_6857delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1696_1697delinsGT MANE Select ENSP00000366307.2:p.Val566=
ENST00000377103.2:c.1696_1697delinsGT ENSP00000366307.2:p.Val566=
NM_000361.2:c.1696_1697delinsGT , LRG_168t1:c.1696_1697delinsGT NP_000352.1:p.Val566=
NM_000361.3:c.1696_1697delinsGT MANE Select NP_000352.1:p.Val566=
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