Canonical Allele Identifier: CA217112715
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs267607296
MyVariant Identifiers: chr11:g.5246921_5246922insGGGCCAGCACAC (hg19) chr11:g.5225691_5225692insGGGCCAGCACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225691_5225692insGGGCCAGCACAC , CM000673.2:g.5225691_5225692insGGGCCAGCACAC GRCh38
NC_000011.9:g.5246921_5246922insGGGCCAGCACAC , CM000673.1:g.5246921_5246922insGGGCCAGCACAC GRCh37
NC_000011.8:g.5203497_5203498insGGGCCAGCACAC NCBI36
NG_000007.3:g.71924_71925insGTGTGCTGGCCC
NG_059281.1:g.6380_6381insGTGTGCTGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.350_351insGTGTGCTGGCCC ENSP00000494175.1:p.His117delinsGlnCysAlaGlyPro
ENST00000335295.4:c.350_351insGTGTGCTGGCCC MANE Select ENSP00000333994.3:p.His117delinsGlnCysAlaGlyPro
ENST00000475226.1:n.282_283insGTGTGCTGGCCC
ENST00000633227.1:c.*166_*167insGTGTGCTGGCCC ENSP00000488004.1:n.*166_*167insGTGTGCTGGCCC
NM_000518.4:c.350_351insGTGTGCTGGCCC NP_000509.1:p.His117delinsGlnCysAlaGlyPro
NM_000518.5:c.350_351insGTGTGCTGGCCC MANE Select NP_000509.1:p.His117delinsGlnCysAlaGlyPro
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