Canonical Allele Identifier: CA677552840
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1612179
ClinVar RCV Id: RCV002150467
dbSNP Id: rs1310746626
gnomAD v3: 11-5226176-AAAAAT-A
gnomAD v4: 11-5226176-AAAAAT-A
MyVariant Identifiers: chr11:g.5247407_5247411del (hg19) chr11:g.5226177_5226181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226181_5226185del , CM000673.2:g.5226181_5226185del GRCh38
NC_000011.9:g.5247411_5247415del , CM000673.1:g.5247411_5247415del GRCh37
NC_000011.8:g.5203987_5203991del NCBI36
NG_000007.3:g.71435_71439del
NG_059281.1:g.5891_5895del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+396_315+400del ENSP00000494175.1:n.315+396_315+400del
ENST00000335295.4:c.315+396_315+400del MANE Select ENSP00000333994.3:n.315+396_315+400del
ENST00000475226.1:n.247+396_247+400del
ENST00000633227.1:c.*131+396_*131+400del ENSP00000488004.1:n.*131+396_*131+400del
NM_000518.4:c.315+396_315+400del NP_000509.1:n.315+396_315+400del
NM_000518.5:c.315+396_315+400del MANE Select NP_000509.1:n.315+396_315+400del
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