Canonical Allele Identifier: CA2612162128

Gene: HBB

Linked Data

• gnomAD v4: 11-5226434-CGATCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226435_5226441del , CM000673.2:g.5226435_5226441del	GRCh38
NC_000011.9:g.5247665_5247671del , CM000673.1:g.5247665_5247671del	GRCh37
NC_000011.8:g.5204241_5204247del	NCBI36
NG_000007.3:g.71175_71181del
NG_059281.1:g.5631_5637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+136_315+142del	ENSP00000494175.1:n.315+136_315+142del
ENST00000335295.4:c.315+136_315+142del MANE Select	ENSP00000333994.3:n.315+136_315+142del
ENST00000475226.1:n.247+136_247+142del
ENST00000485743.1:n.502_508del
ENST00000633227.1:c.*131+136_*131+142del	ENSP00000488004.1:n.*131+136_*131+142del
NM_000518.4:c.315+136_315+142del	NP_000509.1:n.315+136_315+142del
NM_000518.5:c.315+136_315+142del MANE Select	NP_000509.1:n.315+136_315+142del