Canonical Allele Identifier: CA217115612
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs63750898
MyVariant Identifiers: chr11:g.5248243_5248244insG (hg19) chr11:g.5227013_5227014insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227013_5227014insG , CM000673.2:g.5227013_5227014insG GRCh38
NC_000011.9:g.5248243_5248244insG , CM000673.1:g.5248243_5248244insG GRCh37
NC_000011.8:g.5204819_5204820insG NCBI36
NG_000007.3:g.70602_70603insC
NG_059281.1:g.5058_5059insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.8_9insC ENSP00000494175.1:p.Leu4SerfsTer4
ENST00000335295.4:c.8_9insC MANE Select ENSP00000333994.3:p.Leu4SerfsTer4
ENST00000380315.2:c.8_9insC ENSP00000369671.2:p.Leu4SerfsTer4
ENST00000485743.1:n.59_60insC
ENST00000633227.1:c.8_9insC ENSP00000488004.1:p.Leu4SerfsTer4
NM_000518.4:c.8_9insC NP_000509.1:p.Leu4SerfsTer4
NM_000518.5:c.8_9insC MANE Select NP_000509.1:p.Leu4SerfsTer4
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