Canonical Allele Identifier: CA217113632

Gene: HBB

Linked Data

• dbSNP Id: rs63751080
• MyVariant Identifiers: chr11:g.5247847del (hg19) ; chr11:g.5226617del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226617del , CM000673.2:g.5226617del	GRCh38
NC_000011.9:g.5247847del , CM000673.1:g.5247847del	GRCh37
NC_000011.8:g.5204423del	NCBI36
NG_000007.3:g.70999del
NG_059281.1:g.5455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.275del	ENSP00000494175.1:p.Leu92ArgfsTer?
ENST00000335295.4:c.275del MANE Select	ENSP00000333994.3:p.Leu92ArgfsTer?
ENST00000475226.1:n.207del
ENST00000485743.1:n.326del
ENST00000633227.1:c.*91del	ENSP00000488004.1:n.*91del
NM_000518.4:c.275del	NP_000509.1:p.Leu92ArgfsTer?
NM_000518.5:c.275del MANE Select	NP_000509.1:p.Leu92ArgfsTer?