Canonical Allele Identifier: CA916083200
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869348
ClinVar RCV Id: RCV001078418 RCV001284631
dbSNP Id: rs1847560717
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226726del , CM000673.2:g.5226726del GRCh38
NC_000011.9:g.5247956del , CM000673.1:g.5247956del GRCh37
NC_000011.8:g.5204532del NCBI36
NG_000007.3:g.70890del
NG_059281.1:g.5346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.166del ENSP00000494175.1:p.Met56TrpfsTer6
ENST00000335295.4:c.166del MANE Select ENSP00000333994.3:p.Met56TrpfsTer6
ENST00000380315.2:c.166del ENSP00000369671.2:p.Met56TrpfsTer6
ENST00000475226.1:n.98del
ENST00000485743.1:n.217del
ENST00000633227.1:c.150del ENSP00000488004.1:p.Leu50PhefsTer5
NM_000518.4:c.166del NP_000509.1:p.Met56TrpfsTer6
NM_000518.5:c.166del MANE Select NP_000509.1:p.Met56TrpfsTer6
Search 100 bp 5'
Search 100 bp 3'