Canonical Allele Identifier: CA217112298
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs63750694
MyVariant Identifiers: chr11:g.5246848del (hg19) chr11:g.5225618del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225620del , CM000673.2:g.5225620del GRCh38
NC_000011.9:g.5246850del , CM000673.1:g.5246850del GRCh37
NC_000011.8:g.5203426del NCBI36
NG_000007.3:g.71998del
NG_059281.1:g.6454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.424del ENSP00000494175.1:p.Leu142TrpfsTer17
ENST00000335295.4:c.424del MANE Select ENSP00000333994.3:p.Leu142TrpfsTer17
ENST00000633227.1:c.*240del ENSP00000488004.1:n.*240del
NM_000518.4:c.424del NP_000509.1:p.Leu142TrpfsTer17
NM_000518.5:c.424del MANE Select NP_000509.1:p.Leu142TrpfsTer17
Search 100 bp 5'
Search 100 bp 3'