Canonical Allele Identifier: CA217113101
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1101748
ClinVar RCV Id: RCV001424826
dbSNP Id: rs908075557
gnomAD v2: 11-5247411-TAAAAG-T
gnomAD v3: 11-5226181-TAAAAG-T
gnomAD v4: 11-5226181-TAAAAG-T
MyVariant Identifiers: chr11:g.5247412_5247416del (hg19) chr11:g.5226182_5226186del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226186_5226190del , CM000673.2:g.5226186_5226190del GRCh38
NC_000011.9:g.5247416_5247420del , CM000673.1:g.5247416_5247420del GRCh37
NC_000011.8:g.5203992_5203996del NCBI36
NG_000007.3:g.71430_71434del
NG_059281.1:g.5886_5890del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+391_315+395del ENSP00000494175.1:n.315+391_315+395del
ENST00000335295.4:c.315+391_315+395del MANE Select ENSP00000333994.3:n.315+391_315+395del
ENST00000475226.1:n.247+391_247+395del
ENST00000633227.1:c.*131+391_*131+395del ENSP00000488004.1:n.*131+391_*131+395del
NM_000518.4:c.315+391_315+395del NP_000509.1:n.315+391_315+395del
NM_000518.5:c.315+391_315+395del MANE Select NP_000509.1:n.315+391_315+395del
Search 100 bp 5'
Search 100 bp 3'