Canonical Allele Identifier: CA1949564377
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225628_5225638delinsCACACCAGCCA , CM000673.2:g.5225628_5225638delinsCACACCAGCCA GRCh38
NC_000011.9:g.5246858_5246868delinsCACACCAGCCA , CM000673.1:g.5246858_5246868delinsCACACCAGCCA GRCh37
NC_000011.8:g.5203434_5203444delinsCACACCAGCCA NCBI36
NG_000007.3:g.71978_71988delinsTGGCTGGTGTG
NG_059281.1:g.6434_6444delinsTGGCTGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.404_414delinsTGGCTGGTGTG ENSP00000494175.1:p.Val135=
ENST00000335295.4:c.404_414delinsTGGCTGGTGTG MANE Select ENSP00000333994.3:p.Val135=
ENST00000633227.1:c.*220_*230delinsTGGCTGGTGTG ENSP00000488004.1:n.*220_*230delinsTGGCTGGTGTG
NM_000518.4:c.404_414delinsTGGCTGGTGTG NP_000509.1:p.Val135=
NM_000518.5:c.404_414delinsTGGCTGGTGTG MANE Select NP_000509.1:p.Val135=
Search 100 bp 5'
Search 100 bp 3'