Canonical Allele Identifier: CA1949569153
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226752_5226761delinsCCAAAGGACT , CM000673.2:g.5226752_5226761delinsCCAAAGGACT GRCh38
NC_000011.9:g.5247982_5247991delinsCCAAAGGACT , CM000673.1:g.5247982_5247991delinsCCAAAGGACT GRCh37
NC_000011.8:g.5204558_5204567delinsCCAAAGGACT NCBI36
NG_000007.3:g.70855_70864delinsAGTCCTTTGG
NG_059281.1:g.5311_5320delinsAGTCCTTTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.131_140delinsAGTCCTTTGG ENSP00000494175.1:p.Glu44=
ENST00000335295.4:c.131_140delinsAGTCCTTTGG MANE Select ENSP00000333994.3:p.Glu44=
ENST00000380315.2:c.131_140delinsAGTCCTTTGG ENSP00000369671.2:p.Glu44=
ENST00000475226.1:n.63_72delinsAGTCCTTTGG
ENST00000485743.1:n.182_191delinsAGTCCTTTGG
ENST00000633227.1:c.115_124delinsAGTCCTTTGG ENSP00000488004.1:p.Ser39=
NM_000518.4:c.131_140delinsAGTCCTTTGG NP_000509.1:p.Glu44=
NM_000518.5:c.131_140delinsAGTCCTTTGG MANE Select NP_000509.1:p.Glu44=
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