Canonical Allele Identifier: CA1949567824
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226631_5226639delinsGGCAAAGGT , CM000673.2:g.5226631_5226639delinsGGCAAAGGT GRCh38
NC_000011.9:g.5247861_5247869delinsGGCAAAGGT , CM000673.1:g.5247861_5247869delinsGGCAAAGGT GRCh37
NC_000011.8:g.5204437_5204445delinsGGCAAAGGT NCBI36
NG_000007.3:g.70977_70985delinsACCTTTGCC
NG_059281.1:g.5433_5441delinsACCTTTGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.253_261delinsACCTTTGCC ENSP00000494175.1:p.Thr85=
ENST00000335295.4:c.253_261delinsACCTTTGCC MANE Select ENSP00000333994.3:p.Thr85=
ENST00000380315.2:c.253_261delinsACCTTTGCC ENSP00000369671.2:p.Thr85=
ENST00000475226.1:n.185_193delinsACCTTTGCC
ENST00000485743.1:n.304_312delinsACCTTTGCC
ENST00000633227.1:c.*69_*77delinsACCTTTGCC ENSP00000488004.1:n.*69_*77delinsACCTTTGCC
NM_000518.4:c.253_261delinsACCTTTGCC NP_000509.1:p.Thr85=
NM_000518.5:c.253_261delinsACCTTTGCC MANE Select NP_000509.1:p.Thr85=
Search 100 bp 5'
Search 100 bp 3'