Canonical Allele Identifier: CA2790274466
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226985_5226986insG , CM000673.2:g.5226985_5226986insG GRCh38
NC_000011.9:g.5248215_5248216insG , CM000673.1:g.5248215_5248216insG GRCh37
NC_000011.8:g.5204791_5204792insG NCBI36
NG_000007.3:g.70630_70631insC
NG_059281.1:g.5086_5087insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.36_37insC ENSP00000494175.1:p.Thr13HisfsTer11
ENST00000335295.4:c.36_37insC MANE Select ENSP00000333994.3:p.Thr13HisfsTer11
ENST00000380315.2:c.36_37insC ENSP00000369671.2:p.Thr13HisfsTer11
ENST00000485743.1:n.87_88insC
ENST00000633227.1:c.36_37insC ENSP00000488004.1:p.Thr13HisfsTer11
NM_000518.4:c.36_37insC NP_000509.1:p.Thr13HisfsTer11
NM_000518.5:c.36_37insC MANE Select NP_000509.1:p.Thr13HisfsTer11
Search 100 bp 5'
Search 100 bp 3'