Canonical Allele Identifier: CA1949569434
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226773_5226781delinsTGGGTCCAA , CM000673.2:g.5226773_5226781delinsTGGGTCCAA GRCh38
NC_000011.9:g.5248003_5248011delinsTGGGTCCAA , CM000673.1:g.5248003_5248011delinsTGGGTCCAA GRCh37
NC_000011.8:g.5204579_5204587delinsTGGGTCCAA NCBI36
NG_000007.3:g.70835_70843delinsTTGGACCCA
NG_059281.1:g.5291_5299delinsTTGGACCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.111_119delinsTTGGACCCA ENSP00000494175.1:p.Pro37=
ENST00000335295.4:c.111_119delinsTTGGACCCA MANE Select ENSP00000333994.3:p.Pro37=
ENST00000380315.2:c.111_119delinsTTGGACCCA ENSP00000369671.2:p.Pro37=
ENST00000475226.1:n.43_51delinsTTGGACCCA
ENST00000485743.1:n.162_170delinsTTGGACCCA
ENST00000633227.1:c.95_103delinsTTGGACCCA ENSP00000488004.1:p.Leu32=
NM_000518.4:c.111_119delinsTTGGACCCA NP_000509.1:p.Pro37=
NM_000518.5:c.111_119delinsTTGGACCCA MANE Select NP_000509.1:p.Pro37=
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