Canonical Allele Identifier: CA2612149531

Gene: HBD

Linked Data

• gnomAD v4: 11-5234594-TGAACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234595_5234599del , CM000673.2:g.5234595_5234599del	GRCh38
NC_000011.9:g.5255825_5255829del , CM000673.1:g.5255825_5255829del	GRCh37
NC_000011.8:g.5212401_5212405del	NCBI36
NG_000007.3:g.63017_63021del
NG_063112.2:g.14059_14063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-138_-28-134del	ENSP00000494708.1:n.-28-138_-28-134del
ENST00000380299.3:c.-166_-162del	ENSP00000369654.3:n.-166_-162del
ENST00000429817.1:c.-97-69_-97-65del	ENSP00000393810.1:n.-97-69_-97-65del
NM_000519.3:c.-166_-162del	NP_000510.1:n.-166_-162del