Canonical Allele Identifier: CA2574735647

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233945del , CM000673.2:g.5233945del	GRCh38
NC_000011.9:g.5255175del , CM000673.1:g.5255175del	GRCh37
NC_000011.8:g.5211751del	NCBI36
NG_000007.3:g.63672del
NG_063112.2:g.14714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+47del	ENSP00000494708.1:n.315+47del
ENST00000650601.1:c.315+47del MANE Select	ENSP00000497529.1:n.315+47del
ENST00000292901.7:c.315+47del	ENSP00000292901.3:n.315+47del
ENST00000380299.3:c.315+47del	ENSP00000369654.3:n.315+47del
ENST00000417377.1:c.92+398del	ENSP00000414741.1:n.92+398del
NM_000519.3:c.315+47del	NP_000510.1:n.315+47del
NM_000519.4:c.315+47del MANE Select	NP_000510.1:n.315+47del