Canonical Allele Identifier: CA2790274446
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226956_5226960del , CM000673.2:g.5226956_5226960del GRCh38
NC_000011.9:g.5248186_5248190del , CM000673.1:g.5248186_5248190del GRCh37
NC_000011.8:g.5204762_5204766del NCBI36
NG_000007.3:g.70656_70660del
NG_059281.1:g.5112_5116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.62_66del ENSP00000494175.1:p.Val21GlyfsTer5
ENST00000335295.4:c.62_66del MANE Select ENSP00000333994.3:p.Val21GlyfsTer5
ENST00000380315.2:c.62_66del ENSP00000369671.2:p.Val21GlyfsTer5
ENST00000485743.1:n.113_117del
ENST00000633227.1:c.62_66del ENSP00000488004.1:p.Val21GlyfsTer?
NM_000518.4:c.62_66del NP_000509.1:p.Val21GlyfsTer5
NM_000518.5:c.62_66del MANE Select NP_000509.1:p.Val21GlyfsTer5
Search 100 bp 5'
Search 100 bp 3'