Canonical Allele Identifier: CA125378
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15515
ClinVar RCV Id: RCV000016779 RCV001078289
dbSNP Id: rs34750035
MyVariant Identifiers: chr11:g.5247802_5247803del (hg19) chr11:g.5226572_5226573del (hg38)
PubMed: PMID:9427726
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226573_5226574del , CM000673.2:g.5226573_5226574del GRCh38
NC_000011.9:g.5247803_5247804del , CM000673.1:g.5247803_5247804del GRCh37
NC_000011.8:g.5204379_5204380del NCBI36
NG_000007.3:g.71043_71044del
NG_059281.1:g.5499_5500del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+4_315+5del ENSP00000494175.1:n.315+4_315+5del
ENST00000335295.4:c.315+4_315+5del MANE Select ENSP00000333994.3:n.315+4_315+5del
ENST00000475226.1:n.247+4_247+5del
ENST00000485743.1:n.370_371del
ENST00000633227.1:c.*131+4_*131+5del ENSP00000488004.1:n.*131+4_*131+5del
NM_000518.4:c.315+4_315+5del NP_000509.1:n.315+4_315+5del
NM_000518.5:c.315+4_315+5del MANE Select NP_000509.1:n.315+4_315+5del
Search 100 bp 5'
Search 100 bp 3'