Canonical Allele Identifier: CA5839780

Gene: HBB

Linked Data

• dbSNP Id: rs758422235
• ExAC: 11:5248038 G / GCCCCACAGGGCA
• gnomAD v2: 11-5248038-G-GCCCCACAGGGCA
• MyVariant Identifiers: chr11:g.5248038_5248039insCCCCACAGGGCA (hg19) ; chr11:g.5226808_5226809insCCCCACAGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226808_5226809insCCCCACAGGGCA , CM000673.2:g.5226808_5226809insCCCCACAGGGCA	GRCh38
NC_000011.9:g.5248038_5248039insCCCCACAGGGCA , CM000673.1:g.5248038_5248039insCCCCACAGGGCA	GRCh37
NC_000011.8:g.5204614_5204615insCCCCACAGGGCA	NCBI36
NG_000007.3:g.70807_70808insTGCCCTGTGGGG
NG_059281.1:g.5263_5264insTGCCCTGTGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-10_93-9insTGCCCTGTGGGG	ENSP00000494175.1:n.93-10_93-9insTGCCCTGTGGGG
ENST00000335295.4:c.93-10_93-9insTGCCCTGTGGGG MANE Select	ENSP00000333994.3:n.93-10_93-9insTGCCCTGTGGGG
ENST00000380315.2:c.93-10_93-9insTGCCCTGTGGGG	ENSP00000369671.2:n.93-10_93-9insTGCCCTGTGGGG
ENST00000475226.1:n.15_16insTGCCCTGTGGGG
ENST00000485743.1:n.144-10_144-9insTGCCCTGTGGGG
ENST00000633227.1:c.77-10_77-9insTGCCCTGTGGGG	ENSP00000488004.1:n.77-10_77-9insTGCCCTGTGGGG
NM_000518.4:c.93-10_93-9insTGCCCTGTGGGG	NP_000509.1:n.93-10_93-9insTGCCCTGTGGGG
NM_000518.5:c.93-10_93-9insTGCCCTGTGGGG MANE Select	NP_000509.1:n.93-10_93-9insTGCCCTGTGGGG