Canonical Allele Identifier: CA2503647044

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226428_5226432del , CM000673.2:g.5226428_5226432del	GRCh38
NC_000011.9:g.5247658_5247662del , CM000673.1:g.5247658_5247662del	GRCh37
NC_000011.8:g.5204234_5204238del	NCBI36
NG_000007.3:g.71187_71191del
NG_059281.1:g.5643_5647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+148_315+152del	ENSP00000494175.1:n.315+148_315+152del
ENST00000335295.4:c.315+148_315+152del MANE Select	ENSP00000333994.3:n.315+148_315+152del
ENST00000475226.1:n.247+148_247+152del
ENST00000485743.1:n.514_518del
ENST00000633227.1:c.*131+148_*131+152del	ENSP00000488004.1:n.*131+148_*131+152del
NM_000518.4:c.315+148_315+152del	NP_000509.1:n.315+148_315+152del
NM_000518.5:c.315+148_315+152del MANE Select	NP_000509.1:n.315+148_315+152del