Canonical Allele Identifier: CA934690751

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1847924538
• gnomAD v3: 11-5249690-TTGTCC-T
• gnomAD v4: 11-5249690-TTGTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249693_5249697del , CM000673.2:g.5249693_5249697del	GRCh38
NC_000011.9:g.5270923_5270927del , CM000673.1:g.5270923_5270927del	GRCh37
NC_000011.8:g.5227499_5227503del	NCBI36
NG_000007.3:g.47921_47925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+18_92+22del (HBG1) MANE Select	ENSP00000327431.4:n.92+18_92+22del
ENST00000642908.1:c.316-1208_316-1204del	ENSP00000495346.1:n.316-1208_316-1204del
ENST00000647543.1:c.379-1208_379-1204del	ENSP00000496470.1:n.379-1208_379-1204del
ENST00000648735.1:n.143+18_143+22del (HBG1)
ENST00000330597.3:c.92+18_92+22del (HBG1)	ENSP00000327431.3:n.92+18_92+22del
ENST00000620888.4:c.316-1208_316-1204del (HBG2)	ENSP00000479637.1:n.316-1208_316-1204del
ENST00000623781.1:c.265-19_265-15del	ENSP00000485381.1:n.265-19_265-15del
ENST00000632727.1:c.54+56_54+60del (HBG1)	ENSP00000488759.1:n.54+56_54+60del
NM_000559.2:c.92+18_92+22del (HBG1)	NP_000550.2:n.92+18_92+22del
NM_000559.3:c.92+18_92+22del (HBG1) MANE Select	NP_000550.2:n.92+18_92+22del