Canonical Allele Identifier: CA5839775

Gene: HBB

Linked Data

• dbSNP Id: rs753863910
• ExAC: 11:5248032 A / AGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC
• gnomAD v2: 11-5248032-A-AGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC
• MyVariant Identifiers: chr11:g.5248032_5248033insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC (hg19) ; chr11:g.5226802_5226803insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226802_5226803insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC , CM000673.2:g.5226802_5226803insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC	GRCh38
NC_000011.9:g.5248032_5248033insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC , CM000673.1:g.5248032_5248033insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC	GRCh37
NC_000011.8:g.5204608_5204609insGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCAC	NCBI36
NG_000007.3:g.70813_70814insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC
NG_059281.1:g.5269_5270insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC	ENSP00000494175.1:n.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTG...
ENST00000335295.4:c.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC MANE Select	ENSP00000333994.3:n.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTG...
ENST00000380315.2:c.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC	ENSP00000369671.2:n.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTG...
ENST00000475226.1:n.21_22insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC
ENST00000485743.1:n.144-4_144-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC
ENST00000633227.1:c.77-4_77-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC	ENSP00000488004.1:n.77-4_77-3insGTGGGGCAAGGTGAACGTGGATGAAGTTG...
NM_000518.4:c.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC	NP_000509.1:n.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTG...
NM_000518.5:c.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCC MANE Select	NP_000509.1:n.93-4_93-3insGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTG...