Canonical Allele Identifier: CA2612150669

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249490-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249491del , CM000673.2:g.5249491del	GRCh38
NC_000011.9:g.5270721del , CM000673.1:g.5270721del	GRCh37
NC_000011.8:g.5227297del	NCBI36
NG_000007.3:g.48125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.192del (HBG1) MANE Select	ENSP00000327431.4:p.His64GlnfsTer6
ENST00000642908.1:c.316-1004del	ENSP00000495346.1:n.316-1004del
ENST00000647543.1:c.379-1004del	ENSP00000496470.1:n.379-1004del
ENST00000648735.1:n.243del (HBG1)
ENST00000330597.3:c.192del (HBG1)	ENSP00000327431.3:p.His64GlnfsTer6
ENST00000620888.4:c.316-1004del (HBG2)	ENSP00000479637.1:n.316-1004del
ENST00000623781.1:c.163del	ENSP00000485381.1:p.Met55CysfsTer29
ENST00000632727.1:c.*61del (HBG1)	ENSP00000488759.1:n.*61del
NM_000559.2:c.192del (HBG1)	NP_000550.2:p.His64GlnfsTer6
NM_000559.3:c.192del (HBG1) MANE Select	NP_000550.2:p.His64GlnfsTer6