Canonical Allele Identifier: CA1949567678
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226616_5226617delinsCA , CM000673.2:g.5226616_5226617delinsCA GRCh38
NC_000011.9:g.5247846_5247847delinsCA , CM000673.1:g.5247846_5247847delinsCA GRCh37
NC_000011.8:g.5204422_5204423delinsCA NCBI36
NG_000007.3:g.70999_71000delinsTG
NG_059281.1:g.5455_5456delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.275_276delinsTG ENSP00000494175.1:p.Leu92=
ENST00000335295.4:c.275_276delinsTG MANE Select ENSP00000333994.3:p.Leu92=
ENST00000475226.1:n.207_208delinsTG
ENST00000485743.1:n.326_327delinsTG
ENST00000633227.1:c.*91_*92delinsTG ENSP00000488004.1:n.*91_*92delinsTG
NM_000518.4:c.275_276delinsTG NP_000509.1:p.Leu92=
NM_000518.5:c.275_276delinsTG MANE Select NP_000509.1:p.Leu92=
Search 100 bp 5'
Search 100 bp 3'