Canonical Allele Identifier: CA934688341

Gene: HBB

Linked Data

• dbSNP Id: rs1847583183
• gnomAD v3: 11-5226955-CATCCACGTTCACCT-C
• gnomAD v4: 11-5226955-CATCCACGTTCACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226956_5226969del , CM000673.2:g.5226956_5226969del	GRCh38
NC_000011.9:g.5248186_5248199del , CM000673.1:g.5248186_5248199del	GRCh37
NC_000011.8:g.5204762_5204775del	NCBI36
NG_000007.3:g.70647_70660del
NG_059281.1:g.5103_5116del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.53_66del	ENSP00000494175.1:p.Lys18ArgfsTer5
ENST00000335295.4:c.53_66del MANE Select	ENSP00000333994.3:p.Lys18ArgfsTer5
ENST00000380315.2:c.53_66del	ENSP00000369671.2:p.Lys18ArgfsTer5
ENST00000485743.1:n.104_117del
ENST00000633227.1:c.53_66del	ENSP00000488004.1:p.Lys18ArgfsTer?
NM_000518.4:c.53_66del	NP_000509.1:p.Lys18ArgfsTer5
NM_000518.5:c.53_66del MANE Select	NP_000509.1:p.Lys18ArgfsTer5