Canonical Allele Identifier: CA217115169
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs281864496

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226945_5226956del , CM000673.2:g.5226945_5226956del GRCh38
NC_000011.9:g.5248175_5248186del , CM000673.1:g.5248175_5248186del GRCh37
NC_000011.8:g.5204751_5204762del NCBI36
NG_000007.3:g.70663_70674del
NG_059281.1:g.5119_5130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.69_80del ENSP00000494175.1:p.Val24_Glu27del
ENST00000335295.4:c.69_80del MANE Select ENSP00000333994.3:p.Val24_Glu27del
ENST00000380315.2:c.69_80del ENSP00000369671.2:p.Val24_Glu27del
ENST00000485743.1:n.120_131del
ENST00000633227.1:c.69_76+4del
NM_000518.4:c.69_80del NP_000509.1:p.Val24_Glu27del
NM_000518.5:c.69_80del MANE Select NP_000509.1:p.Val24_Glu27del