Canonical Allele Identifier: CA677552803

Gene: HBB

Linked Data

• dbSNP Id: rs1440154561
• MyVariant Identifiers: chr11:g.5247327_5247328del (hg19) ; chr11:g.5226097_5226098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226097_5226098del , CM000673.2:g.5226097_5226098del	GRCh38
NC_000011.9:g.5247327_5247328del , CM000673.1:g.5247327_5247328del	GRCh37
NC_000011.8:g.5203903_5203904del	NCBI36
NG_000007.3:g.71518_71519del
NG_059281.1:g.5974_5975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-372_316-371del	ENSP00000494175.1:n.316-372_316-371del
ENST00000335295.4:c.316-372_316-371del MANE Select	ENSP00000333994.3:n.316-372_316-371del
ENST00000475226.1:n.248-372_248-371del
ENST00000633227.1:c.*132-372_*132-371del	ENSP00000488004.1:n.*132-372_*132-371del
NM_000518.4:c.316-372_316-371del	NP_000509.1:n.316-372_316-371del
NM_000518.5:c.316-372_316-371del MANE Select	NP_000509.1:n.316-372_316-371del