Canonical Allele Identifier: CA1949565330
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225726_5225727delinsGC , CM000673.2:g.5225726_5225727delinsGC GRCh38
NC_000011.9:g.5246956_5246957delinsGC , CM000673.1:g.5246956_5246957delinsGC GRCh37
NC_000011.8:g.5203532_5203533delinsGC NCBI36
NG_000007.3:g.71889_71890delinsGC
NG_059281.1:g.6345_6346delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-1_316delinsGC
ENST00000335295.4:c.316-1_316delinsGC
ENST00000475226.1:n.248-1_248delinsGC
ENST00000633227.1:c.*132-1_*132delinsGC
NM_000518.4:c.316-1_316delinsGC
NM_000518.5:c.316-1_316delinsGC