Canonical Allele Identifier: CA342851
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36301
ClinVar RCV Id: RCV000029966
dbSNP Id: rs193922552

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227002_5227003delinsAT , CM000673.2:g.5227002_5227003delinsAT GRCh38
NC_000011.9:g.5248232_5248233delinsAT , CM000673.1:g.5248232_5248233delinsAT GRCh37
NC_000011.8:g.5204808_5204809delinsAT NCBI36
NG_000007.3:g.70613_70614delinsAT
NG_059281.1:g.5069_5070delinsAT

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.19_20delinsAT VV NP_000509.1:p.Glu7Met
NM_000518.5:c.19_20delinsAT VV MANE Preferred
ENST00000335295.4:c.19_20delinsAT ENSP00000333994.3:p.Glu7Met
ENST00000380315.2:c.19_20delinsAT ENSP00000369671.2:p.Glu7Met
ENST00000485743.1:n.70_71delinsAT
ENST00000633227.1:c.19_20delinsAT ENSP00000488004.1:p.Glu7Met