Canonical Allele Identifier: CA2790275023

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225481_5225482del , CM000673.2:g.5225481_5225482del	GRCh38
NC_000011.9:g.5246711_5246712del , CM000673.1:g.5246711_5246712del	GRCh37
NC_000011.8:g.5203287_5203288del	NCBI36
NG_000007.3:g.72135_72136del
NG_059281.1:g.6591_6592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*117_*118del	ENSP00000494175.1:n.*117_*118del
ENST00000335295.4:c.*117_*118del MANE Select	ENSP00000333994.3:n.*117_*118del
ENST00000633227.1:c.*377_*378del	ENSP00000488004.1:n.*377_*378del
NM_000518.4:c.*117_*118del	NP_000509.1:n.*117_*118del
NM_000518.5:c.*117_*118del MANE Select	NP_000509.1:n.*117_*118del