Canonical Allele Identifier: CA1949567501
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226596_5226599delinsACGT , CM000673.2:g.5226596_5226599delinsACGT GRCh38
NC_000011.9:g.5247826_5247829delinsACGT , CM000673.1:g.5247826_5247829delinsACGT GRCh37
NC_000011.8:g.5204402_5204405delinsACGT NCBI36
NG_000007.3:g.71017_71020delinsACGT
NG_059281.1:g.5473_5476delinsACGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.293_296delinsACGT ENSP00000494175.1:p.His98=
ENST00000335295.4:c.293_296delinsACGT MANE Select ENSP00000333994.3:p.His98=
ENST00000475226.1:n.225_228delinsACGT
ENST00000485743.1:n.344_347delinsACGT
ENST00000633227.1:c.*109_*112delinsACGT ENSP00000488004.1:n.*109_*112delinsACGT
NM_000518.4:c.293_296delinsACGT NP_000509.1:p.His98=
NM_000518.5:c.293_296delinsACGT MANE Select NP_000509.1:p.His98=
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