Canonical Allele Identifier: CA934690720

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1847923183
• gnomAD v3: 11-5249556-AG-A
• gnomAD v4: 11-5249556-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249557del , CM000673.2:g.5249557del	GRCh38
NC_000011.9:g.5270787del , CM000673.1:g.5270787del	GRCh37
NC_000011.8:g.5227363del	NCBI36
NG_000007.3:g.48059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.126del (HBG1) MANE Select	ENSP00000327431.4:p.Phe43LeufsTer27
ENST00000642908.1:c.316-1070del	ENSP00000495346.1:n.316-1070del
ENST00000647543.1:c.379-1070del	ENSP00000496470.1:n.379-1070del
ENST00000648735.1:n.177del (HBG1)
ENST00000330597.3:c.126del (HBG1)	ENSP00000327431.3:p.Phe43LeufsTer27
ENST00000620888.4:c.316-1070del (HBG2)	ENSP00000479637.1:n.316-1070del
ENST00000623781.1:c.229del	ENSP00000485381.1:p.Glu77AsnfsTer7
ENST00000632727.1:c.88del (HBG1)	ENSP00000488759.1:p.Leu30PhefsTer?
NM_000559.2:c.126del (HBG1)	NP_000550.2:p.Phe43LeufsTer27
NM_000559.3:c.126del (HBG1) MANE Select	NP_000550.2:p.Phe43LeufsTer27