Canonical Allele Identifier: CA5839774

Gene: HBB

Linked Data

• ExAC: 11:5248031 T / TGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC
• MyVariant Identifiers: chr11:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226801_5226802insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC , CM000673.2:g.5226801_5226802insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC	GRCh38
NC_000011.9:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC , CM000673.1:g.5248031_5248032insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC	GRCh37
NC_000011.8:g.5204607_5204608insGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGC	NCBI36
NG_000007.3:g.70814_70815insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
NG_059281.1:g.5270_5271insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000494175.1:n.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGA...
ENST00000335295.4:c.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC MANE Select	ENSP00000333994.3:n.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGA...
ENST00000380315.2:c.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000369671.2:n.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGA...
ENST00000475226.1:n.22_23insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
ENST00000485743.1:n.144-3_144-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC
ENST00000633227.1:c.77-3_77-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	ENSP00000488004.1:n.77-3_77-2insGCCCTGTGGGGCAAGGTGAACGTGGATGA...
NM_000518.4:c.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC	NP_000509.1:n.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGG...
NM_000518.5:c.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGC MANE Select	NP_000509.1:n.93-3_93-2insGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGG...