Canonical Allele Identifier: CA5839745
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs775936922
ExAC: 11:5247888 G / GTGCTTTA
MyVariant Identifiers: chr11:g.5247888_5247889insTGCTTTA (hg19) chr11:g.5226658_5226659insTGCTTTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226660_5226661insCTTTATG , CM000673.2:g.5226660_5226661insCTTTATG GRCh38
NC_000011.9:g.5247890_5247891insCTTTATG , CM000673.1:g.5247890_5247891insCTTTATG GRCh37
NC_000011.8:g.5204466_5204467insCTTTATG NCBI36
NG_000007.3:g.70957_70958insTAAAGCA
NG_059281.1:g.5413_5414insTAAAGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.233_234insTAAAGCA ENSP00000494175.1:p.Leu79LysfsTer15
ENST00000335295.4:c.233_234insTAAAGCA MANE Select ENSP00000333994.3:p.Leu79LysfsTer15
ENST00000380315.2:c.233_234insTAAAGCA ENSP00000369671.2:p.Leu79LysfsTer15
ENST00000475226.1:n.165_166insTAAAGCA
ENST00000485743.1:n.284_285insTAAAGCA
ENST00000633227.1:c.*49_*50insTAAAGCA ENSP00000488004.1:n.*49_*50insTAAAGCA
NM_000518.4:c.233_234insTAAAGCA NP_000509.1:p.Leu79LysfsTer15
NM_000518.5:c.233_234insTAAAGCA MANE Select NP_000509.1:p.Leu79LysfsTer15
Search 100 bp 5'
Search 100 bp 3'