Canonical Allele Identifier: CA2790274365

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233907_5233914del , CM000673.2:g.5233907_5233914del	GRCh38
NC_000011.9:g.5255137_5255144del , CM000673.1:g.5255137_5255144del	GRCh37
NC_000011.8:g.5211713_5211720del	NCBI36
NG_000007.3:g.63702_63709del
NG_063112.2:g.14744_14751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+77_315+84del	ENSP00000494708.1:n.315+77_315+84del
ENST00000650601.1:c.315+77_315+84del MANE Select	ENSP00000497529.1:n.315+77_315+84del
ENST00000292901.7:c.315+77_315+84del	ENSP00000292901.3:n.315+77_315+84del
ENST00000380299.3:c.315+77_315+84del	ENSP00000369654.3:n.315+77_315+84del
ENST00000417377.1:c.92+428_92+435del	ENSP00000414741.1:n.92+428_92+435del
NM_000519.3:c.315+77_315+84del	NP_000510.1:n.315+77_315+84del
NM_000519.4:c.315+77_315+84del MANE Select	NP_000510.1:n.315+77_315+84del