Canonical Allele Identifier: CA1949569308
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226763_5226766delinsAAAG , CM000673.2:g.5226763_5226766delinsAAAG GRCh38
NC_000011.9:g.5247993_5247996delinsAAAG , CM000673.1:g.5247993_5247996delinsAAAG GRCh37
NC_000011.8:g.5204569_5204572delinsAAAG NCBI36
NG_000007.3:g.70850_70853delinsCTTT
NG_059281.1:g.5306_5309delinsCTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.126_129delinsCTTT ENSP00000494175.1:p.Phe42=
ENST00000335295.4:c.126_129delinsCTTT MANE Select ENSP00000333994.3:p.Phe42=
ENST00000380315.2:c.126_129delinsCTTT ENSP00000369671.2:p.Phe42=
ENST00000475226.1:n.58_61delinsCTTT
ENST00000485743.1:n.177_180delinsCTTT
ENST00000633227.1:c.110_113delinsCTTT ENSP00000488004.1:p.Ser37=
NM_000518.4:c.126_129delinsCTTT NP_000509.1:p.Phe42=
NM_000518.5:c.126_129delinsCTTT MANE Select NP_000509.1:p.Phe42=
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