Canonical Allele Identifier: CA1949564689

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233855_5233858delinsTAAC , CM000673.2:g.5233855_5233858delinsTAAC	GRCh38
NC_000011.9:g.5255085_5255088delinsTAAC , CM000673.1:g.5255085_5255088delinsTAAC	GRCh37
NC_000011.8:g.5211661_5211664delinsTAAC	NCBI36
NG_000007.3:g.63758_63761delinsGTTA
NG_063112.2:g.14800_14803delinsGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+133_315+136delinsGTTA	ENSP00000494708.1:n.315+133_315+136delinsGTTA
ENST00000650601.1:c.315+133_315+136delinsGTTA MANE Select	ENSP00000497529.1:n.315+133_315+136delinsGTTA
ENST00000292901.7:c.315+133_315+136delinsGTTA	ENSP00000292901.3:n.315+133_315+136delinsGTTA
ENST00000380299.3:c.315+133_315+136delinsGTTA	ENSP00000369654.3:n.315+133_315+136delinsGTTA
ENST00000417377.1:c.92+484_92+487delinsGTTA	ENSP00000414741.1:n.92+484_92+487delinsGTTA
NM_000519.3:c.315+133_315+136delinsGTTA	NP_000510.1:n.315+133_315+136delinsGTTA
NM_000519.4:c.315+133_315+136delinsGTTA MANE Select	NP_000510.1:n.315+133_315+136delinsGTTA