Canonical Allele Identifier: CA2612149516

Gene: HBD

Linked Data

• gnomAD v4: 11-5234588-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234593del , CM000673.2:g.5234593del	GRCh38
NC_000011.9:g.5255823del , CM000673.1:g.5255823del	GRCh37
NC_000011.8:g.5212399del	NCBI36
NG_000007.3:g.63027del
NG_063112.2:g.14069del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-128del	ENSP00000494708.1:n.-28-128del
ENST00000380299.3:c.-156del	ENSP00000369654.3:n.-156del
ENST00000429817.1:c.-97-59del	ENSP00000393810.1:n.-97-59del
NM_000519.3:c.-156del	NP_000510.1:n.-156del