Canonical Allele Identifier: CA2612148701

Gene: HBD

Linked Data

• gnomAD v4: 11-5233858-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233861_5233862del , CM000673.2:g.5233861_5233862del	GRCh38
NC_000011.9:g.5255091_5255092del , CM000673.1:g.5255091_5255092del	GRCh37
NC_000011.8:g.5211667_5211668del	NCBI36
NG_000007.3:g.63756_63757del
NG_063112.2:g.14798_14799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+131_315+132del	ENSP00000494708.1:n.315+131_315+132del
ENST00000650601.1:c.315+131_315+132del MANE Select	ENSP00000497529.1:n.315+131_315+132del
ENST00000292901.7:c.315+131_315+132del	ENSP00000292901.3:n.315+131_315+132del
ENST00000380299.3:c.315+131_315+132del	ENSP00000369654.3:n.315+131_315+132del
ENST00000417377.1:c.92+482_92+483del	ENSP00000414741.1:n.92+482_92+483del
NM_000519.3:c.315+131_315+132del	NP_000510.1:n.315+131_315+132del
NM_000519.4:c.315+131_315+132del MANE Select	NP_000510.1:n.315+131_315+132del