Canonical Allele Identifier: CA677553028

Gene: HBB

Linked Data

• ClinVar Variation Id: 1158508
• ClinVar RCV Id: RCV001501964
• dbSNP Id: rs1268908857
• gnomAD v4: 11-5226419-TAAAAG-T
• MyVariant Identifiers: chr11:g.5247650_5247654del (hg19) ; chr11:g.5226420_5226424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226423_5226427del , CM000673.2:g.5226423_5226427del	GRCh38
NC_000011.9:g.5247653_5247657del , CM000673.1:g.5247653_5247657del	GRCh37
NC_000011.8:g.5204229_5204233del	NCBI36
NG_000007.3:g.71192_71196del
NG_059281.1:g.5648_5652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+153_315+157del	ENSP00000494175.1:n.315+153_315+157del
ENST00000335295.4:c.315+153_315+157del MANE Select	ENSP00000333994.3:n.315+153_315+157del
ENST00000475226.1:n.247+153_247+157del
ENST00000485743.1:n.519_523del
ENST00000633227.1:c.*131+153_*131+157del	ENSP00000488004.1:n.*131+153_*131+157del
NM_000518.4:c.315+153_315+157del	NP_000509.1:n.315+153_315+157del
NM_000518.5:c.315+153_315+157del MANE Select	NP_000509.1:n.315+153_315+157del