Canonical Allele Identifier: CA916083173
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869317
ClinVar RCV Id: RCV001078379
dbSNP Id: rs1847523960
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225625dup , CM000673.2:g.5225625dup GRCh38
NC_000011.9:g.5246855dup , CM000673.1:g.5246855dup GRCh37
NC_000011.8:g.5203431dup NCBI36
NG_000007.3:g.71991dup
NG_059281.1:g.6447dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.417dup ENSP00000494175.1:p.Asn140Ter
ENST00000335295.4:c.417dup MANE Select ENSP00000333994.3:p.Asn140Ter
ENST00000633227.1:c.*233dup ENSP00000488004.1:n.*233dup
NM_000518.4:c.417dup NP_000509.1:p.Asn140Ter
NM_000518.5:c.417dup MANE Select NP_000509.1:p.Asn140Ter
Search 100 bp 5'
Search 100 bp 3'