Canonical Allele Identifier: CA2695213033

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226596_5226597dup , CM000673.2:g.5226596_5226597dup	GRCh38
NC_000011.9:g.5247826_5247827dup , CM000673.1:g.5247826_5247827dup	GRCh37
NC_000011.8:g.5204402_5204403dup	NCBI36
NG_000007.3:g.71020_71021dup
NG_059281.1:g.5476_5477dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.296_297dup	ENSP00000494175.1:p.Asp100TrpfsTer?
ENST00000335295.4:c.296_297dup MANE Select	ENSP00000333994.3:p.Asp100TrpfsTer?
ENST00000475226.1:n.228_229dup
ENST00000485743.1:n.347_348dup
ENST00000633227.1:c.*112_*113dup	ENSP00000488004.1:n.*112_*113dup
NM_000518.4:c.296_297dup	NP_000509.1:p.Asp100TrpfsTer?
NM_000518.5:c.296_297dup MANE Select	NP_000509.1:p.Asp100TrpfsTer?