Canonical Allele Identifier: CA2695213078
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227017_5227018del , CM000673.2:g.5227017_5227018del GRCh38
NC_000011.9:g.5248247_5248248del , CM000673.1:g.5248247_5248248del GRCh37
NC_000011.8:g.5204823_5204824del NCBI36
NG_000007.3:g.70599_70600del
NG_059281.1:g.5055_5056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.5_6del ENSP00000494175.1:p.Val2AlafsTer5
ENST00000335295.4:c.5_6del MANE Select ENSP00000333994.3:p.Val2AlafsTer5
ENST00000380315.2:c.5_6del ENSP00000369671.2:p.Val2AlafsTer5
ENST00000485743.1:n.56_57del
ENST00000633227.1:c.5_6del ENSP00000488004.1:p.Val2AlafsTer5
NM_000518.4:c.5_6del NP_000509.1:p.Val2AlafsTer5
NM_000518.5:c.5_6del MANE Select NP_000509.1:p.Val2AlafsTer5
Search 100 bp 5'
Search 100 bp 3'