Canonical Allele Identifier: CA379273838
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5226663del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226664del , CM000673.2:g.5226664del GRCh38
NC_000011.9:g.5247894del , CM000673.1:g.5247894del GRCh37
NC_000011.8:g.5204470del NCBI36
NG_000007.3:g.70953del
NG_059281.1:g.5409del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.229del ENSP00000494175.1:p.Ala77LeufsTer13
ENST00000335295.4:c.229del MANE Select ENSP00000333994.3:p.Ala77LeufsTer13
ENST00000380315.2:c.229del ENSP00000369671.2:p.Ala77LeufsTer13
ENST00000475226.1:n.161del
ENST00000485743.1:n.280del
ENST00000633227.1:c.*45del ENSP00000488004.1:n.*45del
NM_000518.4:c.229del NP_000509.1:p.Ala77LeufsTer13
NM_000518.5:c.229del MANE Select NP_000509.1:p.Ala77LeufsTer13
Search 100 bp 5'
Search 100 bp 3'