Canonical Allele Identifier: CA597217563
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1592636
ClinVar RCV Id: RCV002096665
dbSNP Id: rs1250450244
gnomAD v2: 11-5247416-GAAAAT-G
gnomAD v3: 11-5226186-GAAAAT-G
gnomAD v4: 11-5226186-GAAAAT-G
MyVariant Identifiers: chr11:g.5247417_5247421del (hg19) chr11:g.5226187_5226191del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226190_5226194del , CM000673.2:g.5226190_5226194del GRCh38
NC_000011.9:g.5247420_5247424del , CM000673.1:g.5247420_5247424del GRCh37
NC_000011.8:g.5203996_5204000del NCBI36
NG_000007.3:g.71425_71429del
NG_059281.1:g.5881_5885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+386_315+390del ENSP00000494175.1:n.315+386_315+390del
ENST00000335295.4:c.315+386_315+390del MANE Select ENSP00000333994.3:n.315+386_315+390del
ENST00000475226.1:n.247+386_247+390del
ENST00000633227.1:c.*131+386_*131+390del ENSP00000488004.1:n.*131+386_*131+390del
NM_000518.4:c.315+386_315+390del NP_000509.1:n.315+386_315+390del
NM_000518.5:c.315+386_315+390del MANE Select NP_000509.1:n.315+386_315+390del
Search 100 bp 5'
Search 100 bp 3'