Canonical Allele Identifier: CA217114665

Gene: HBB

Linked Data

• dbSNP Id: rs193922563
• MyVariant Identifiers: chr11:g.5248026_5248027insAGCCTAAGGGTGGGAAAATAGACCA (hg19) ; chr11:g.5226796_5226797insAGCCTAAGGGTGGGAAAATAGACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226798_5226822dup , CM000673.2:g.5226798_5226822dup	GRCh38
NC_000011.9:g.5248028_5248052dup , CM000673.1:g.5248028_5248052dup	GRCh37
NC_000011.8:g.5204604_5204628dup	NCBI36
NG_000007.3:g.70795_70819dup
NG_059281.1:g.5251_5275dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-22_95dup
ENST00000335295.4:c.93-22_95dup
ENST00000380315.2:c.93-22_95dup
ENST00000475226.1:n.3_27dup
ENST00000485743.1:n.144-22_146dup
ENST00000633227.1:c.77-22_79dup
NM_000518.4:c.93-22_95dup
NM_000518.5:c.93-22_95dup