Canonical Allele Identifier: CA2573147130
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1569465
ClinVar RCV Id: RCV002220695
dbSNP Id: rs2133587070
gnomAD v4: 11-5226174-TTAAAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226180_5226185del , CM000673.2:g.5226180_5226185del GRCh38
NC_000011.9:g.5247410_5247415del , CM000673.1:g.5247410_5247415del GRCh37
NC_000011.8:g.5203986_5203991del NCBI36
NG_000007.3:g.71436_71441del
NG_059281.1:g.5892_5897del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+397_315+402del ENSP00000494175.1:n.315+397_315+402del
ENST00000335295.4:c.315+397_315+402del MANE Select ENSP00000333994.3:n.315+397_315+402del
ENST00000475226.1:n.247+397_247+402del
ENST00000633227.1:c.*131+397_*131+402del ENSP00000488004.1:n.*131+397_*131+402del
NM_000518.4:c.315+397_315+402del NP_000509.1:n.315+397_315+402del
NM_000518.5:c.315+397_315+402del MANE Select NP_000509.1:n.315+397_315+402del
Search 100 bp 5'
Search 100 bp 3'