Canonical Allele Identifier: CA934690716

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1847920931
• gnomAD v3: 11-5249341-CA-C
• gnomAD v4: 11-5249341-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249342del , CM000673.2:g.5249342del	GRCh38
NC_000011.9:g.5270572del , CM000673.1:g.5270572del	GRCh37
NC_000011.8:g.5227148del	NCBI36
NG_000007.3:g.48274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+26del (HBG1) MANE Select	ENSP00000327431.4:n.315+26del
ENST00000642908.1:c.316-855del	ENSP00000495346.1:n.316-855del
ENST00000647543.1:c.379-855del	ENSP00000496470.1:n.379-855del
ENST00000648735.1:n.392del (HBG1)
ENST00000330597.3:c.315+26del (HBG1)	ENSP00000327431.3:n.315+26del
ENST00000620888.4:c.316-855del (HBG2)	ENSP00000479637.1:n.316-855del
ENST00000623781.1:c.43-29del	ENSP00000485381.1:n.43-29del
ENST00000632727.1:c.*184+26del (HBG1)	ENSP00000488759.1:n.*184+26del
NM_000559.2:c.315+26del (HBG1)	NP_000550.2:n.315+26del
NM_000559.3:c.315+26del (HBG1) MANE Select	NP_000550.2:n.315+26del