Canonical Allele Identifier: CA2355681463

Gene: THBD

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23049242_23049278delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT , CM000682.2:g.23049242_23049278delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT	GRCh38
NC_000020.10:g.23029879_23029915delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT , CM000682.1:g.23029879_23029915delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT	GRCh37
NC_000020.9:g.22977879_22977915delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT	NCBI36
NG_012027.1:g.5387_5423delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT , LRG_168:g.5387_5423delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT MANE Select	ENSP00000366307.2:p.Asn76=
ENST00000377103.2:c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT	ENSP00000366307.2:p.Asn76=
NM_000361.2:c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT , LRG_168t1:c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT	NP_000352.1:p.Asn76=
NM_000361.3:c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT MANE Select	NP_000352.1:p.Asn76=