Canonical Allele Identifier: CA2695213037

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226628_5226637delinsCTGAGAAAAA , CM000673.2:g.5226628_5226637delinsCTGAGAAAAA	GRCh38
NC_000011.9:g.5247858_5247867delinsCTGAGAAAAA , CM000673.1:g.5247858_5247867delinsCTGAGAAAAA	GRCh37
NC_000011.8:g.5204434_5204443delinsCTGAGAAAAA	NCBI36
NG_000007.3:g.70979_70988delinsTTTTTCTCAG
NG_059281.1:g.5435_5444delinsTTTTTCTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.255_264delinsTTTTTCTCAG	ENSP00000494175.1:p.Ala87_Thr88delinsSerGln
ENST00000335295.4:c.255_264delinsTTTTTCTCAG MANE Select	ENSP00000333994.3:p.Ala87_Thr88delinsSerGln
ENST00000380315.2:c.255_264delinsTTTTTCTCAG	ENSP00000369671.2:p.Ala87_Thr88delinsSerGln
ENST00000475226.1:n.187_196delinsTTTTTCTCAG
ENST00000485743.1:n.306_315delinsTTTTTCTCAG
ENST00000633227.1:c.*71_*80delinsTTTTTCTCAG	ENSP00000488004.1:n.*71_*80delinsTTTTTCTCAG
NM_000518.4:c.255_264delinsTTTTTCTCAG	NP_000509.1:p.Ala87_Thr88delinsSerGln
NM_000518.5:c.255_264delinsTTTTTCTCAG MANE Select	NP_000509.1:p.Ala87_Thr88delinsSerGln