Canonical Allele Identifier: CA217113464

Gene: HBB

Linked Data

• dbSNP Id: rs63750556

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226590_5226591delinsAGTTCTCAGA , CM000673.2:g.5226590_5226591delinsAGTTCTCAGA	GRCh38
NC_000011.9:g.5247820_5247821delinsAGTTCTCAGA , CM000673.1:g.5247820_5247821delinsAGTTCTCAGA	GRCh37
NC_000011.8:g.5204396_5204397delinsAGTTCTCAGA	NCBI36
NG_000007.3:g.71025_71026delinsTCTGAGAACT
NG_059281.1:g.5481_5482delinsTCTGAGAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.301_302delinsTCTGAGAACT	ENSP00000494175.1:p.Pro101SerfsTer?
ENST00000335295.4:c.301_302delinsTCTGAGAACT MANE Select	ENSP00000333994.3:p.Pro101SerfsTer?
ENST00000475226.1:n.233_234delinsTCTGAGAACT
ENST00000485743.1:n.352_353delinsTCTGAGAACT
ENST00000633227.1:c.*117_*118delinsTCTGAGAACT	ENSP00000488004.1:n.*117_*118delinsTCTGAGAACT
NM_000518.4:c.301_302delinsTCTGAGAACT	NP_000509.1:p.Pro101SerfsTer?
NM_000518.5:c.301_302delinsTCTGAGAACT MANE Select	NP_000509.1:p.Pro101SerfsTer?