Canonical Allele Identifier: CA2843640265

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225553del , CM000673.2:g.5225553del	GRCh38
NC_000011.9:g.5246783del , CM000673.1:g.5246783del	GRCh37
NC_000011.8:g.5203359del	NCBI36
NG_000007.3:g.72065del
NG_059281.1:g.6521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*47del	ENSP00000494175.1:n.*47del
ENST00000335295.4:c.*47del MANE Select	ENSP00000333994.3:n.*47del
ENST00000633227.1:c.*307del	ENSP00000488004.1:n.*307del
NM_000518.4:c.*47del	NP_000509.1:n.*47del
NM_000518.5:c.*47del MANE Select	NP_000509.1:n.*47del