Canonical Allele Identifier: CA1949570109

Gene: HBB

Linked Data

• ClinVar Variation Id: 1696145
• ClinVar RCV Id: RCV002266289
• dbSNP Id: rs1847578475

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226915_5226916insCCA , CM000673.2:g.5226915_5226916insCCA	GRCh38
NC_000011.9:g.5248145_5248146insCCA , CM000673.1:g.5248145_5248146insCCA	GRCh37
NC_000011.8:g.5204721_5204722insCCA	NCBI36
NG_000007.3:g.70701_70702insGGT
NG_059281.1:g.5157_5158insGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.92+15_92+16insGGT	ENSP00000494175.1:n.92+15_92+16insGGT
ENST00000335295.4:c.92+15_92+16insGGT MANE Select	ENSP00000333994.3:n.92+15_92+16insGGT
ENST00000380315.2:c.92+15_92+16insGGT	ENSP00000369671.2:n.92+15_92+16insGGT
ENST00000485743.1:n.143+15_143+16insGGT
ENST00000633227.1:c.76+31_76+32insGGT	ENSP00000488004.1:n.76+31_76+32insGGT
NM_000518.4:c.92+15_92+16insGGT	NP_000509.1:n.92+15_92+16insGGT
NM_000518.5:c.92+15_92+16insGGT MANE Select	NP_000509.1:n.92+15_92+16insGGT