Canonical Allele Identifier: CA2790275144

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGT , CM000673.2:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGT	GRCh38
NC_000011.9:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGT , CM000673.1:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGT	GRCh37
NC_000011.8:g.5203533_5203534insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGT	NCBI36
NG_000007.3:g.71888_71889insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG
NG_059281.1:g.6344_6345insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	ENSP00000494175.1:n.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGA...
ENST00000335295.4:c.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG MANE Select	ENSP00000333994.3:n.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGA...
ENST00000475226.1:n.248-2_248-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG
ENST00000633227.1:c.*132-2_*132-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	ENSP00000488004.1:n.*132-2_*132-1insACCTCAAGGGCACCTTTGCCACACT...
NM_000518.4:c.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	NP_000509.1:n.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGC...
NM_000518.5:c.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG MANE Select	NP_000509.1:n.316-2_316-1insACCTCAAGGGCACCTTTGCCACACTGAGTGAGC...