Canonical Allele Identifier: CA916083220
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869350
ClinVar RCV Id: RCV001078420 RCV002280787
dbSNP Id: rs1847587286
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226993_5226994insTA , CM000673.2:g.5226993_5226994insTA GRCh38
NC_000011.9:g.5248223_5248224insTA , CM000673.1:g.5248223_5248224insTA GRCh37
NC_000011.8:g.5204799_5204800insTA NCBI36
NG_000007.3:g.70622_70623insTA
NG_059281.1:g.5078_5079insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.28_29insTA ENSP00000494175.1:p.Ser10LeufsTer11
ENST00000335295.4:c.28_29insTA MANE Select ENSP00000333994.3:p.Ser10LeufsTer11
ENST00000380315.2:c.28_29insTA ENSP00000369671.2:p.Ser10LeufsTer11
ENST00000485743.1:n.79_80insTA
ENST00000633227.1:c.28_29insTA ENSP00000488004.1:p.Ser10LeufsTer11
NM_000518.4:c.28_29insTA NP_000509.1:p.Ser10LeufsTer11
NM_000518.5:c.28_29insTA MANE Select NP_000509.1:p.Ser10LeufsTer11
Search 100 bp 5'
Search 100 bp 3'