Canonical Allele Identifier: CA5839702

Gene: HBB

Linked Data

• dbSNP Id: rs756416304
• ExAC: 11:5246954 G / GAGCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGC
• MyVariant Identifiers: chr11:g.5246954_5246955insAGCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGC (hg19) ; chr11:g.5225724_5225725insAGCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC , CM000673.2:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC	GRCh38
NC_000011.9:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC , CM000673.1:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC	GRCh37
NC_000011.8:g.5203533_5203534insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGC	NCBI36
NG_000007.3:g.71891_71892insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
NG_059281.1:g.6347_6348insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
ENST00000335295.4:c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
ENST00000475226.1:n.249_250insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
ENST00000633227.1:c.*133_*134insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
NM_000518.4:c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT
NM_000518.5:c.317_318insGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCT