Canonical Allele Identifier: CA913190234
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 619685
ClinVar RCV Id: RCV000759064 RCV001251374 RCV001830660
dbSNP Id: rs1564874901
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226598_5226601dup , CM000673.2:g.5226598_5226601dup GRCh38
NC_000011.9:g.5247828_5247831dup , CM000673.1:g.5247828_5247831dup GRCh37
NC_000011.8:g.5204404_5204407dup NCBI36
NG_000007.3:g.71016_71019dup
NG_059281.1:g.5472_5475dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.292_295dup ENSP00000494175.1:p.Val99AlafsTer5
ENST00000335295.4:c.292_295dup MANE Select ENSP00000333994.3:p.Val99AlafsTer5
ENST00000475226.1:n.224_227dup
ENST00000485743.1:n.343_346dup
ENST00000633227.1:c.*108_*111dup ENSP00000488004.1:n.*108_*111dup
NM_000518.4:c.292_295dup NP_000509.1:p.Val99AlafsTer5
NM_000518.5:c.292_295dup MANE Select NP_000509.1:p.Val99AlafsTer5
Search 100 bp 5'
Search 100 bp 3'