Canonical Allele Identifier: CA1949565928

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225927_5225928delinsTA , CM000673.2:g.5225927_5225928delinsTA	GRCh38
NC_000011.9:g.5247157_5247158delinsTA , CM000673.1:g.5247157_5247158delinsTA	GRCh37
NC_000011.8:g.5203733_5203734delinsTA	NCBI36
NG_000007.3:g.71688_71689delinsTA
NG_059281.1:g.6144_6145delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-202_316-201delinsTA	ENSP00000494175.1:n.316-202_316-201delinsTA
ENST00000335295.4:c.316-202_316-201delinsTA MANE Select	ENSP00000333994.3:n.316-202_316-201delinsTA
ENST00000475226.1:n.248-202_248-201delinsTA
ENST00000633227.1:c.*132-202_*132-201delinsTA	ENSP00000488004.1:n.*132-202_*132-201delinsTA
NM_000518.4:c.316-202_316-201delinsTA	NP_000509.1:n.316-202_316-201delinsTA
NM_000518.5:c.316-202_316-201delinsTA MANE Select	NP_000509.1:n.316-202_316-201delinsTA