Canonical Allele Identifier: CA891862904

Gene: HBB

Linked Data

• ClinVar Variation Id: 590887
• ClinVar RCV Id: RCV000722073
• dbSNP Id: rs1564875707
• MyVariant Identifiers: chr11:g.5248135_5248427del (hg19) ; chr11:g.5226905_5227197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226905_5227197del , CM000673.2:g.5226905_5227197del	GRCh38
NC_000011.9:g.5248135_5248427del , CM000673.1:g.5248135_5248427del	GRCh37
NC_000011.8:g.5204711_5205003del	NCBI36
NG_000007.3:g.70419_70711del
NG_059281.1:g.4875_5167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-176_92+25del
ENST00000380315.2:c.-18-158_92+25del