Canonical Allele Identifier: CA2612150840

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249747-T-TCACCTTGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249750_5249761dup , CM000673.2:g.5249750_5249761dup	GRCh38
NC_000011.9:g.5270980_5270991dup , CM000673.1:g.5270980_5270991dup	GRCh37
NC_000011.8:g.5227556_5227567dup	NCBI36
NG_000007.3:g.47857_47868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.46_57dup (HBG1) MANE Select	ENSP00000327431.4:p.Val19_Asn20insTrpGlyLysVal
ENST00000642908.1:c.316-1272_316-1261dup	ENSP00000495346.1:n.316-1272_316-1261dup
ENST00000647543.1:c.379-1272_379-1261dup	ENSP00000496470.1:n.379-1272_379-1261dup
ENST00000648735.1:n.97_108dup (HBG1)
ENST00000330597.3:c.46_57dup (HBG1)	ENSP00000327431.3:p.Val19_Asn20insTrpGlyLysVal
ENST00000620888.4:c.316-1272_316-1261dup (HBG2)	ENSP00000479637.1:n.316-1272_316-1261dup
ENST00000623781.1:c.303_314dup	ENSP00000485381.1:p.Pro104_Gln105insHisLeuAlaPro
ENST00000632727.1:c.46_54+3dup (HBG1)
NM_000559.2:c.46_57dup (HBG1)	NP_000550.2:p.Val19_Asn20insTrpGlyLysVal
NM_000559.3:c.46_57dup (HBG1) MANE Select	NP_000550.2:p.Val19_Asn20insTrpGlyLysVal