Canonical Allele Identifier: CA677553034

Gene: HBB

Linked Data

• ClinVar Variation Id: 1094269
• ClinVar RCV Id: RCV001414710
• dbSNP Id: rs1371816847
• gnomAD v4: 11-5226424-GAAACTA-G
• MyVariant Identifiers: chr11:g.5247655_5247660del (hg19) ; chr11:g.5226425_5226430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226429_5226434del , CM000673.2:g.5226429_5226434del	GRCh38
NC_000011.9:g.5247659_5247664del , CM000673.1:g.5247659_5247664del	GRCh37
NC_000011.8:g.5204235_5204240del	NCBI36
NG_000007.3:g.71186_71191del
NG_059281.1:g.5642_5647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+147_315+152del	ENSP00000494175.1:n.315+147_315+152del
ENST00000335295.4:c.315+147_315+152del MANE Select	ENSP00000333994.3:n.315+147_315+152del
ENST00000475226.1:n.247+147_247+152del
ENST00000485743.1:n.513_518del
ENST00000633227.1:c.*131+147_*131+152del	ENSP00000488004.1:n.*131+147_*131+152del
NM_000518.4:c.315+147_315+152del	NP_000509.1:n.315+147_315+152del
NM_000518.5:c.315+147_315+152del MANE Select	NP_000509.1:n.315+147_315+152del