Canonical Allele Identifier: CA217114476
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869297
ClinVar RCV Id: RCV001078356 RCV001293624
dbSNP Id: rs33979901
MyVariant Identifiers: chr11:g.5247992_5247993insA (hg19) chr11:g.5226762_5226763insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226765dup , CM000673.2:g.5226765dup GRCh38
NC_000011.9:g.5247995dup , CM000673.1:g.5247995dup GRCh37
NC_000011.8:g.5204571dup NCBI36
NG_000007.3:g.70853dup
NG_059281.1:g.5309dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.129dup ENSP00000494175.1:p.Glu44Ter
ENST00000335295.4:c.129dup MANE Select ENSP00000333994.3:p.Glu44Ter
ENST00000380315.2:c.129dup ENSP00000369671.2:p.Glu44Ter
ENST00000475226.1:n.61dup
ENST00000485743.1:n.180dup
ENST00000633227.1:c.113dup ENSP00000488004.1:p.Leu38PhefsTer?
NM_000518.4:c.129dup NP_000509.1:p.Glu44Ter
NM_000518.5:c.129dup MANE Select NP_000509.1:p.Glu44Ter
Search 100 bp 5'
Search 100 bp 3'