Canonical Allele Identifier: CA2612149512

Gene: HBD

Linked Data

• gnomAD v4: 11-5234586-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234587_5234588del , CM000673.2:g.5234587_5234588del	GRCh38
NC_000011.9:g.5255817_5255818del , CM000673.1:g.5255817_5255818del	GRCh37
NC_000011.8:g.5212393_5212394del	NCBI36
NG_000007.3:g.63028_63029del
NG_063112.2:g.14070_14071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-127_-28-126del	ENSP00000494708.1:n.-28-127_-28-126del
ENST00000380299.3:c.-155_-154del	ENSP00000369654.3:n.-155_-154del
ENST00000429817.1:c.-97-58_-97-57del	ENSP00000393810.1:n.-97-58_-97-57del
NM_000519.3:c.-155_-154del	NP_000510.1:n.-155_-154del