Canonical Allele Identifier: CA217115119

Gene: HBB

Linked Data

• ClinVar Variation Id: 869240
• ClinVar RCV Id: RCV001078275
• dbSNP Id: rs35532010
• MyVariant Identifiers: chr11:g.5248167del (hg19) ; chr11:g.5226937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226939del , CM000673.2:g.5226939del	GRCh38
NC_000011.9:g.5248169del , CM000673.1:g.5248169del	GRCh37
NC_000011.8:g.5204745del	NCBI36
NG_000007.3:g.70679del
NG_059281.1:g.5135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.85del	ENSP00000494175.1:p.Leu29TrpfsTer?
ENST00000335295.4:c.85del MANE Select	ENSP00000333994.3:p.Leu29TrpfsTer?
ENST00000380315.2:c.85del	ENSP00000369671.2:p.Leu29TrpfsTer?
ENST00000485743.1:n.136del
ENST00000633227.1:c.76+9del	ENSP00000488004.1:n.76+9del
NM_000518.4:c.85del	NP_000509.1:p.Leu29TrpfsTer?
NM_000518.5:c.85del MANE Select	NP_000509.1:p.Leu29TrpfsTer?