Canonical Allele Identifier: CA2575852733

Gene: HBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177390_177397del , CM000678.2:g.177390_177397del	GRCh38
NC_000016.9:g.227389_227396del , CM000678.1:g.227389_227396del	GRCh37
NC_000016.8:g.167389_167396del	NCBI36
NG_000006.1:g.38253_38260del
NG_059186.1:g.5740_5747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.408_415del MANE Select	ENSP00000322421.5:p.Leu137GlnfsTer?
ENST00000397797.1:c.312_319del	ENSP00000380899.1:p.Leu105GlnfsTer?
ENST00000472694.1:n.544_551del
NM_000558.4:c.408_415del	NP_000549.1:p.Leu137GlnfsTer?
NM_000558.5:c.408_415del MANE Select	NP_000549.1:p.Leu137GlnfsTer?