Canonical Allele Identifier: CA217112582

Gene: HBB

Linked Data

• dbSNP Id: rs35238478
• MyVariant Identifiers: chr11:g.5246902del (hg19) ; chr11:g.5225672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225672del , CM000673.2:g.5225672del	GRCh38
NC_000011.9:g.5246902del , CM000673.1:g.5246902del	GRCh37
NC_000011.8:g.5203478del	NCBI36
NG_000007.3:g.71944del
NG_059281.1:g.6400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.370del	ENSP00000494175.1:p.Thr124ProfsTer?
ENST00000335295.4:c.370del MANE Select	ENSP00000333994.3:p.Thr124ProfsTer?
ENST00000475226.1:n.302del
ENST00000633227.1:c.*186del	ENSP00000488004.1:n.*186del
NM_000518.4:c.370del	NP_000509.1:p.Thr124ProfsTer?
NM_000518.5:c.370del MANE Select	NP_000509.1:p.Thr124ProfsTer?