Canonical Allele Identifier: CA597436129
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1602125
ClinVar RCV Id: RCV002127756
dbSNP Id: rs1385066437
gnomAD v2: 11-5248051-AAT-A
gnomAD v3: 11-5226821-AAT-A
gnomAD v4: 11-5226821-AAT-A
MyVariant Identifiers: chr11:g.5248052_5248053del (hg19) chr11:g.5226822_5226823del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226823_5226824del , CM000673.2:g.5226823_5226824del GRCh38
NC_000011.9:g.5248053_5248054del , CM000673.1:g.5248053_5248054del GRCh37
NC_000011.8:g.5204629_5204630del NCBI36
NG_000007.3:g.70793_70794del
NG_059281.1:g.5249_5250del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-24_93-23del ENSP00000494175.1:n.93-24_93-23del
ENST00000335295.4:c.93-24_93-23del MANE Select ENSP00000333994.3:n.93-24_93-23del
ENST00000380315.2:c.93-24_93-23del ENSP00000369671.2:n.93-24_93-23del
ENST00000485743.1:n.144-24_144-23del
ENST00000633227.1:c.77-24_77-23del ENSP00000488004.1:n.77-24_77-23del
NM_000518.4:c.93-24_93-23del NP_000509.1:n.93-24_93-23del
NM_000518.5:c.93-24_93-23del MANE Select NP_000509.1:n.93-24_93-23del
Search 100 bp 5'
Search 100 bp 3'