Canonical Allele Identifier: CA1949567622
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226609_5226610delinsCA , CM000673.2:g.5226609_5226610delinsCA GRCh38
NC_000011.9:g.5247839_5247840delinsCA , CM000673.1:g.5247839_5247840delinsCA GRCh37
NC_000011.8:g.5204415_5204416delinsCA NCBI36
NG_000007.3:g.71006_71007delinsTG
NG_059281.1:g.5462_5463delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.282_283delinsTG ENSP00000494175.1:p.Cys94=
ENST00000335295.4:c.282_283delinsTG MANE Select ENSP00000333994.3:p.Cys94=
ENST00000475226.1:n.214_215delinsTG
ENST00000485743.1:n.333_334delinsTG
ENST00000633227.1:c.*98_*99delinsTG ENSP00000488004.1:n.*98_*99delinsTG
NM_000518.4:c.282_283delinsTG NP_000509.1:p.Cys94=
NM_000518.5:c.282_283delinsTG MANE Select NP_000509.1:p.Cys94=
Search 100 bp 5'
Search 100 bp 3'