Canonical Allele Identifier: CA1949569634
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226795_5226820delinsGCAGCCTAAGGGTGGGAAAATAGACC , CM000673.2:g.5226795_5226820delinsGCAGCCTAAGGGTGGGAAAATAGACC GRCh38
NC_000011.9:g.5248025_5248050delinsGCAGCCTAAGGGTGGGAAAATAGACC , CM000673.1:g.5248025_5248050delinsGCAGCCTAAGGGTGGGAAAATAGACC GRCh37
NC_000011.8:g.5204601_5204626delinsGCAGCCTAAGGGTGGGAAAATAGACC NCBI36
NG_000007.3:g.70796_70821delinsGGTCTATTTTCCCACCCTTAGGCTGC
NG_059281.1:g.5252_5277delinsGGTCTATTTTCCCACCCTTAGGCTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-21_97delinsGGTCTATTTTCCCACCCTTAGGCTGC
ENST00000335295.4:c.93-21_97delinsGGTCTATTTTCCCACCCTTAGGCTGC
ENST00000380315.2:c.93-21_97delinsGGTCTATTTTCCCACCCTTAGGCTGC
ENST00000475226.1:n.4_29delinsGGTCTATTTTCCCACCCTTAGGCTGC
ENST00000485743.1:n.144-21_148delinsGGTCTATTTTCCCACCCTTAGGCTGC
ENST00000633227.1:c.77-21_81delinsGGTCTATTTTCCCACCCTTAGGCTGC
NM_000518.4:c.93-21_97delinsGGTCTATTTTCCCACCCTTAGGCTGC
NM_000518.5:c.93-21_97delinsGGTCTATTTTCCCACCCTTAGGCTGC