Canonical Allele Identifier: CA2499221076

Gene: HBB

Linked Data

• ClinVar Variation Id: 1076533
• ClinVar RCV Id: RCV001390477

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226755_5227283del , CM000673.2:g.5226755_5227283del	GRCh38
NC_000011.9:g.5247985_5248513del , CM000673.1:g.5247985_5248513del	GRCh37
NC_000011.8:g.5204561_5205089del	NCBI36
NG_000007.3:g.70338_70866del
NG_059281.1:g.4794_5322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380315.2:c.-19+234_142del