Canonical Allele Identifier: CA645509058
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439159
ClinVar RCV Id: RCV000506776
dbSNP Id: rs1554917536
MyVariant Identifiers: chr11:g.5246883_5246885del (hg19) chr11:g.5225653_5225655del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225655_5225657del , CM000673.2:g.5225655_5225657del GRCh38
NC_000011.9:g.5246885_5246887del , CM000673.1:g.5246885_5246887del GRCh37
NC_000011.8:g.5203461_5203463del NCBI36
NG_000007.3:g.71961_71963del
NG_059281.1:g.6417_6419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.387_389del ENSP00000494175.1:p.Ala130del
ENST00000335295.4:c.387_389del MANE Select ENSP00000333994.3:p.Ala130del
ENST00000633227.1:c.*203_*205del ENSP00000488004.1:n.*203_*205del
NM_000518.4:c.387_389del NP_000509.1:p.Ala130del
NM_000518.5:c.387_389del MANE Select NP_000509.1:p.Ala130del
Search 100 bp 5'
Search 100 bp 3'