Canonical Allele Identifier: CA2695213032

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226584_5226585insGA , CM000673.2:g.5226584_5226585insGA	GRCh38
NC_000011.9:g.5247814_5247815insGA , CM000673.1:g.5247814_5247815insGA	GRCh37
NC_000011.8:g.5204390_5204391insGA	NCBI36
NG_000007.3:g.71031_71032insTC
NG_059281.1:g.5487_5488insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.307_308insTC	ENSP00000494175.1:p.Asn103IlefsTer?
ENST00000335295.4:c.307_308insTC MANE Select	ENSP00000333994.3:p.Asn103IlefsTer?
ENST00000475226.1:n.239_240insTC
ENST00000485743.1:n.358_359insTC
ENST00000633227.1:c.*123_*124insTC	ENSP00000488004.1:n.*123_*124insTC
NM_000518.4:c.307_308insTC	NP_000509.1:p.Asn103IlefsTer?
NM_000518.5:c.307_308insTC MANE Select	NP_000509.1:p.Asn103IlefsTer?