Canonical Allele Identifier: CA2612148692

Gene: HBD

Linked Data

• gnomAD v4: 11-5233849-AAAAATTAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233856_5233864del , CM000673.2:g.5233856_5233864del	GRCh38
NC_000011.9:g.5255086_5255094del , CM000673.1:g.5255086_5255094del	GRCh37
NC_000011.8:g.5211662_5211670del	NCBI36
NG_000007.3:g.63758_63766del
NG_063112.2:g.14800_14808del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.315+133_315+141del	ENSP00000494708.1:n.315+133_315+141del
ENST00000650601.1:c.315+133_315+141del MANE Select	ENSP00000497529.1:n.315+133_315+141del
ENST00000292901.7:c.315+133_315+141del	ENSP00000292901.3:n.315+133_315+141del
ENST00000380299.3:c.315+133_315+141del	ENSP00000369654.3:n.315+133_315+141del
ENST00000417377.1:c.92+484_92+492del	ENSP00000414741.1:n.92+484_92+492del
NM_000519.3:c.315+133_315+141del	NP_000510.1:n.315+133_315+141del
NM_000519.4:c.315+133_315+141del MANE Select	NP_000510.1:n.315+133_315+141del