Canonical Allele Identifier: CA2573054151

Gene: HBA1

Linked Data

• ClinVar Variation Id: 1323050
• ClinVar RCV Id: RCV001783414
• dbSNP Id: rs2142021563

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177340_177344del , CM000678.2:g.177340_177344del	GRCh38
NC_000016.9:g.227339_227343del , CM000678.1:g.227339_227343del	GRCh37
NC_000016.8:g.167339_167343del	NCBI36
NG_000006.1:g.38203_38207del
NG_059186.1:g.5690_5694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.358_362del MANE Select	ENSP00000322421.5:p.Pro120GlyfsTer?
ENST00000397797.1:c.262_266del	ENSP00000380899.1:p.Pro88GlyfsTer?
ENST00000472694.1:n.494_498del
NM_000558.4:c.358_362del	NP_000549.1:p.Pro120GlyfsTer?
NM_000558.5:c.358_362del MANE Select	NP_000549.1:p.Pro120GlyfsTer?