Canonical Allele Identifier: CA217115592
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34058656
MyVariant Identifiers: chr11:g.5248242_5248243insA (hg19) chr11:g.5227012_5227013insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227013dup , CM000673.2:g.5227013dup GRCh38
NC_000011.9:g.5248243dup , CM000673.1:g.5248243dup GRCh37
NC_000011.8:g.5204819dup NCBI36
NG_000007.3:g.70603dup
NG_059281.1:g.5059dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.9dup ENSP00000494175.1:p.Leu4SerfsTer4
ENST00000335295.4:c.9dup MANE Select ENSP00000333994.3:p.Leu4SerfsTer4
ENST00000380315.2:c.9dup ENSP00000369671.2:p.Leu4SerfsTer4
ENST00000485743.1:n.60dup
ENST00000633227.1:c.9dup ENSP00000488004.1:p.Leu4SerfsTer4
NM_000518.4:c.9dup NP_000509.1:p.Leu4SerfsTer4
NM_000518.5:c.9dup MANE Select NP_000509.1:p.Leu4SerfsTer4
Search 100 bp 5'
Search 100 bp 3'