Canonical Allele Identifier: CA125291
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15425
ClinVar RCV Id: RCV000016681
dbSNP Id: rs41443947

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225698_5225699delinsC , CM000673.2:g.5225698_5225699delinsC GRCh38
NC_000011.9:g.5246928_5246929delinsC , CM000673.1:g.5246928_5246929delinsC GRCh37
NC_000011.8:g.5203504_5203505delinsC NCBI36
NG_000007.3:g.71917_71918delinsG
NG_059281.1:g.6373_6374delinsG

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.343_344delinsG VV NP_000509.1:p.Leu115GlyfsTer?
NM_000518.5:c.343_344delinsG VV MANE Preferred NP_000509.1:p.Leu115GlyfsTer?
ENST00000335295.4:c.343_344delinsG ENSP00000333994.3:p.Leu115GlyfsTer?
ENST00000475226.1:n.275_276delinsG
ENST00000633227.1:c.*159_*160delinsG ENSP00000488004.1:p.=