Canonical Allele Identifier: CA677551807
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1369885078
MyVariant Identifiers: chr11:g.5246864del (hg19) chr11:g.5225634del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225634del , CM000673.2:g.5225634del GRCh38
NC_000011.9:g.5246864del , CM000673.1:g.5246864del GRCh37
NC_000011.8:g.5203440del NCBI36
NG_000007.3:g.71982del
NG_059281.1:g.6438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.408del ENSP00000494175.1:p.Gly137ValfsTer22
ENST00000335295.4:c.408del MANE Select ENSP00000333994.3:p.Gly137ValfsTer22
ENST00000633227.1:c.*224del ENSP00000488004.1:n.*224del
NM_000518.4:c.408del NP_000509.1:p.Gly137ValfsTer22
NM_000518.5:c.408del MANE Select NP_000509.1:p.Gly137ValfsTer22
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Search 100 bp 3'