Canonical Allele Identifier: CA217112549
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869284
ClinVar RCV Id: RCV001078332
dbSNP Id: rs281864544
gnomAD v4: 11-5225666-G-GT
MyVariant Identifiers: chr11:g.5246896_5246897insT (hg19) chr11:g.5225666_5225667insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225667dup , CM000673.2:g.5225667dup GRCh38
NC_000011.9:g.5246897dup , CM000673.1:g.5246897dup GRCh37
NC_000011.8:g.5203473dup NCBI36
NG_000007.3:g.71949dup
NG_059281.1:g.6405dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.375dup ENSP00000494175.1:p.Pro126ThrfsTer15
ENST00000335295.4:c.375dup MANE Select ENSP00000333994.3:p.Pro126ThrfsTer15
ENST00000475226.1:n.307dup
ENST00000633227.1:c.*191dup ENSP00000488004.1:n.*191dup
NM_000518.4:c.375dup NP_000509.1:p.Pro126ThrfsTer15
NM_000518.5:c.375dup MANE Select NP_000509.1:p.Pro126ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'