Canonical Allele Identifier: CA916083187
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869301
ClinVar RCV Id: RCV001078360
dbSNP Id: rs1847553982
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226634_5226641del , CM000673.2:g.5226634_5226641del GRCh38
NC_000011.9:g.5247864_5247871del , CM000673.1:g.5247864_5247871del GRCh37
NC_000011.8:g.5204440_5204447del NCBI36
NG_000007.3:g.70977_70984del
NG_059281.1:g.5433_5440del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.253_260del ENSP00000494175.1:p.Thr85HisfsTer4
ENST00000335295.4:c.253_260del MANE Select ENSP00000333994.3:p.Thr85HisfsTer4
ENST00000380315.2:c.253_260del ENSP00000369671.2:p.Thr85HisfsTer4
ENST00000475226.1:n.185_192del
ENST00000485743.1:n.304_311del
ENST00000633227.1:c.*69_*76del ENSP00000488004.1:n.*69_*76del
NM_000518.4:c.253_260del NP_000509.1:p.Thr85HisfsTer4
NM_000518.5:c.253_260del MANE Select NP_000509.1:p.Thr85HisfsTer4
Search 100 bp 5'
Search 100 bp 3'