Canonical Allele Identifier: CA5839772

Gene: HBB

Linked Data

• dbSNP Id: rs762474553
• ExAC: 11:5248031 T / TGCCCAGGGCCTCACCACCAACTTCATCCACGTTC
• gnomAD v2: 11-5248031-T-TGCCCAGGGCCTCACCACCAACTTCATCCACGTTC
• gnomAD v4: 11-5226801-T-TGCCCAGGGCCTCACCACCAACTTCATCCACGTTC
• MyVariant Identifiers: chr11:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC (hg19) ; chr11:g.5226801_5226802insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226801_5226802insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC , CM000673.2:g.5226801_5226802insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC	GRCh38
NC_000011.9:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC , CM000673.1:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC	GRCh37
NC_000011.8:g.5204607_5204608insGCCCAGGGCCTCACCACCAACTTCATCCACGTTC	NCBI36
NG_000007.3:g.70814_70815insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
NG_059281.1:g.5270_5271insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000494175.1:n.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCC...
ENST00000335295.4:c.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC MANE Select	ENSP00000333994.3:n.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCC...
ENST00000380315.2:c.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000369671.2:n.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCC...
ENST00000475226.1:n.22_23insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
ENST00000485743.1:n.144-3_144-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
ENST00000633227.1:c.77-3_77-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000488004.1:n.77-3_77-2insGAACGTGGATGAAGTTGGTGGTGAGGCCC...
NM_000518.4:c.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	NP_000509.1:n.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
NM_000518.5:c.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC MANE Select	NP_000509.1:n.93-3_93-2insGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC