Canonical Allele Identifier: CA217113242
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 765761
ClinVar RCV Id: RCV000944217
dbSNP Id: rs375849787
gnomAD v2: 11-5247599-AAAAG-A
gnomAD v3: 11-5226369-AAAAG-A
gnomAD v4: 11-5226369-AAAAG-A
MyVariant Identifiers: chr11:g.5247600_5247603del (hg19) chr11:g.5226370_5226373del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226374_5226377del , CM000673.2:g.5226374_5226377del GRCh38
NC_000011.9:g.5247604_5247607del , CM000673.1:g.5247604_5247607del GRCh37
NC_000011.8:g.5204180_5204183del NCBI36
NG_000007.3:g.71243_71246del
NG_059281.1:g.5699_5702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+204_315+207del ENSP00000494175.1:n.315+204_315+207del
ENST00000335295.4:c.315+204_315+207del MANE Select ENSP00000333994.3:n.315+204_315+207del
ENST00000475226.1:n.247+204_247+207del
ENST00000485743.1:n.570_573del
ENST00000633227.1:c.*131+204_*131+207del ENSP00000488004.1:n.*131+204_*131+207del
NM_000518.4:c.315+204_315+207del NP_000509.1:n.315+204_315+207del
NM_000518.5:c.315+204_315+207del MANE Select NP_000509.1:n.315+204_315+207del
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