Canonical Allele Identifier: CA217115196
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869363
ClinVar RCV Id: RCV001078436 RCV001284492
dbSNP Id: rs35619688
gnomAD v4: 11-5226943-C-CA
MyVariant Identifiers: chr11:g.5248173_5248174insA (hg19) chr11:g.5226943_5226944insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226944dup , CM000673.2:g.5226944dup GRCh38
NC_000011.9:g.5248174dup , CM000673.1:g.5248174dup GRCh37
NC_000011.8:g.5204750dup NCBI36
NG_000007.3:g.70672dup
NG_059281.1:g.5128dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.78dup ENSP00000494175.1:p.Glu27Ter
ENST00000335295.4:c.78dup MANE Select ENSP00000333994.3:p.Glu27Ter
ENST00000380315.2:c.78dup ENSP00000369671.2:p.Glu27Ter
ENST00000485743.1:n.129dup
ENST00000633227.1:c.76+2dup ENSP00000488004.1:n.76+2dup
NM_000518.4:c.78dup NP_000509.1:p.Glu27Ter
NM_000518.5:c.78dup MANE Select NP_000509.1:p.Glu27Ter
Search 100 bp 5'
Search 100 bp 3'