Canonical Allele Identifier: CA916083207
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869296
ClinVar RCV Id: RCV001078355
dbSNP Id: rs33979901
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226765del , CM000673.2:g.5226765del GRCh38
NC_000011.9:g.5247995del , CM000673.1:g.5247995del GRCh37
NC_000011.8:g.5204571del NCBI36
NG_000007.3:g.70853del
NG_059281.1:g.5309del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.129del ENSP00000494175.1:p.Phe43LeufsTer19
ENST00000335295.4:c.129del MANE Select ENSP00000333994.3:p.Phe43LeufsTer19
ENST00000380315.2:c.129del ENSP00000369671.2:p.Phe43LeufsTer19
ENST00000475226.1:n.61del
ENST00000485743.1:n.180del
ENST00000633227.1:c.113del ENSP00000488004.1:p.Leu38Ter
NM_000518.4:c.129del NP_000509.1:p.Phe43LeufsTer19
NM_000518.5:c.129del MANE Select NP_000509.1:p.Phe43LeufsTer19
Search 100 bp 5'
Search 100 bp 3'