Canonical Allele Identifier: CA677553009

Gene: HBB

Linked Data

• ClinVar Variation Id: 2829137
• ClinVar RCV Id: RCV003693993
• dbSNP Id: rs1240317854
• gnomAD v4: 11-5226385-TAAAC-T
• MyVariant Identifiers: chr11:g.5247616_5247619del (hg19) ; chr11:g.5226386_5226389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226389_5226392del , CM000673.2:g.5226389_5226392del	GRCh38
NC_000011.9:g.5247619_5247622del , CM000673.1:g.5247619_5247622del	GRCh37
NC_000011.8:g.5204195_5204198del	NCBI36
NG_000007.3:g.71227_71230del
NG_059281.1:g.5683_5686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+188_315+191del	ENSP00000494175.1:n.315+188_315+191del
ENST00000335295.4:c.315+188_315+191del MANE Select	ENSP00000333994.3:n.315+188_315+191del
ENST00000475226.1:n.247+188_247+191del
ENST00000485743.1:n.554_557del
ENST00000633227.1:c.*131+188_*131+191del	ENSP00000488004.1:n.*131+188_*131+191del
NM_000518.4:c.315+188_315+191del	NP_000509.1:n.315+188_315+191del
NM_000518.5:c.315+188_315+191del MANE Select	NP_000509.1:n.315+188_315+191del