Canonical Allele Identifier: CA597205357

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1224724098
• gnomAD v2: 11-5271060-TAACCTC-T
• gnomAD v3: 11-5249830-TAACCTC-T
• gnomAD v4: 11-5249830-TAACCTC-T
• MyVariant Identifiers: chr11:g.5271061_5271066del (hg19) ; chr11:g.5249831_5249836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249832_5249837del , CM000673.2:g.5249832_5249837del	GRCh38
NC_000011.9:g.5271062_5271067del , CM000673.1:g.5271062_5271067del	GRCh37
NC_000011.8:g.5227638_5227643del	NCBI36
NG_000007.3:g.47780_47785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.-32_-27del (HBG1) MANE Select	ENSP00000327431.4:n.-32_-27del
ENST00000642908.1:c.316-1349_316-1344del	ENSP00000495346.1:n.316-1349_316-1344del
ENST00000647543.1:c.379-1349_379-1344del	ENSP00000496470.1:n.379-1349_379-1344del
ENST00000648735.1:n.20_25del (HBG1)
ENST00000330597.3:c.-32_-27del (HBG1)	ENSP00000327431.3:n.-32_-27del
ENST00000620888.4:c.316-1349_316-1344del (HBG2)	ENSP00000479637.1:n.316-1349_316-1344del
ENST00000623781.1:c.385_390del	ENSP00000485381.1:p.Thr129_Ser130del
NM_000559.2:c.-32_-27del (HBG1)	NP_000550.2:n.-32_-27del
NM_000559.3:c.-32_-27del (HBG1) MANE Select	NP_000550.2:n.-32_-27del