Canonical Allele Identifier: CA1949571253
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227017_5227018delinsAC , CM000673.2:g.5227017_5227018delinsAC GRCh38
NC_000011.9:g.5248247_5248248delinsAC , CM000673.1:g.5248247_5248248delinsAC GRCh37
NC_000011.8:g.5204823_5204824delinsAC NCBI36
NG_000007.3:g.70598_70599delinsGT
NG_059281.1:g.5054_5055delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.4_5delinsGT ENSP00000494175.1:p.Val2=
ENST00000335295.4:c.4_5delinsGT MANE Select ENSP00000333994.3:p.Val2=
ENST00000380315.2:c.4_5delinsGT ENSP00000369671.2:p.Val2=
ENST00000485743.1:n.55_56delinsGT
ENST00000633227.1:c.4_5delinsGT ENSP00000488004.1:p.Val2=
NM_000518.4:c.4_5delinsGT NP_000509.1:p.Val2=
NM_000518.5:c.4_5delinsGT MANE Select NP_000509.1:p.Val2=
Search 100 bp 5'
Search 100 bp 3'