Canonical Allele Identifier: CA1949566340

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226176_5226181delinsAAAAAT , CM000673.2:g.5226176_5226181delinsAAAAAT	GRCh38
NC_000011.9:g.5247406_5247411delinsAAAAAT , CM000673.1:g.5247406_5247411delinsAAAAAT	GRCh37
NC_000011.8:g.5203982_5203987delinsAAAAAT	NCBI36
NG_000007.3:g.71435_71440delinsATTTTT
NG_059281.1:g.5891_5896delinsATTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+396_315+401delinsATTTTT	ENSP00000494175.1:n.315+396_315+401delinsATTTTT
ENST00000335295.4:c.315+396_315+401delinsATTTTT MANE Select	ENSP00000333994.3:n.315+396_315+401delinsATTTTT
ENST00000475226.1:n.247+396_247+401delinsATTTTT
ENST00000633227.1:c.*131+396_*131+401delinsATTTTT	ENSP00000488004.1:n.*131+396_*131+401delinsATTTTT
NM_000518.4:c.315+396_315+401delinsATTTTT	NP_000509.1:n.315+396_315+401delinsATTTTT
NM_000518.5:c.315+396_315+401delinsATTTTT MANE Select	NP_000509.1:n.315+396_315+401delinsATTTTT