Canonical Allele Identifier: CA1949566346

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226181_5226187delinsTAAAAGA , CM000673.2:g.5226181_5226187delinsTAAAAGA	GRCh38
NC_000011.9:g.5247411_5247417delinsTAAAAGA , CM000673.1:g.5247411_5247417delinsTAAAAGA	GRCh37
NC_000011.8:g.5203987_5203993delinsTAAAAGA	NCBI36
NG_000007.3:g.71429_71435delinsTCTTTTA
NG_059281.1:g.5885_5891delinsTCTTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+390_315+396delinsTCTTTTA	ENSP00000494175.1:n.315+390_315+396delinsTCTTTTA
ENST00000335295.4:c.315+390_315+396delinsTCTTTTA MANE Select	ENSP00000333994.3:n.315+390_315+396delinsTCTTTTA
ENST00000475226.1:n.247+390_247+396delinsTCTTTTA
ENST00000633227.1:c.*131+390_*131+396delinsTCTTTTA	ENSP00000488004.1:n.*131+390_*131+396delinsTCTTTTA
NM_000518.4:c.315+390_315+396delinsTCTTTTA	NP_000509.1:n.315+390_315+396delinsTCTTTTA
NM_000518.5:c.315+390_315+396delinsTCTTTTA MANE Select	NP_000509.1:n.315+390_315+396delinsTCTTTTA