Canonical Allele Identifier: CA916083181

Gene: HBB

Linked Data

• ClinVar Variation Id: 869351
• ClinVar RCV Id: RCV001078421
• dbSNP Id: rs63750556

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226590_5226591delinsAAGTTCTCAGA , CM000673.2:g.5226590_5226591delinsAAGTTCTCAGA	GRCh38
NC_000011.9:g.5247820_5247821delinsAAGTTCTCAGA , CM000673.1:g.5247820_5247821delinsAAGTTCTCAGA	GRCh37
NC_000011.8:g.5204396_5204397delinsAAGTTCTCAGA	NCBI36
NG_000007.3:g.71025_71026delinsTCTGAGAACTT
NG_059281.1:g.5481_5482delinsTCTGAGAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.301_302delinsTCTGAGAACTT	ENSP00000494175.1:p.Pro101delinsSerGluAsnPhe
ENST00000335295.4:c.301_302delinsTCTGAGAACTT MANE Select	ENSP00000333994.3:p.Pro101delinsSerGluAsnPhe
ENST00000475226.1:n.233_234delinsTCTGAGAACTT
ENST00000485743.1:n.352_353delinsTCTGAGAACTT
ENST00000633227.1:c.*117_*118delinsTCTGAGAACTT	ENSP00000488004.1:n.*117_*118delinsTCTGAGAACTT
NM_000518.4:c.301_302delinsTCTGAGAACTT	NP_000509.1:p.Pro101delinsSerGluAsnPhe
NM_000518.5:c.301_302delinsTCTGAGAACTT MANE Select	NP_000509.1:p.Pro101delinsSerGluAsnPhe