Canonical Allele Identifier: CA2200883300

Gene: HBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177377_177378delinsCT , CM000678.2:g.177377_177378delinsCT	GRCh38
NC_000016.9:g.227376_227377delinsCT , CM000678.1:g.227376_227377delinsCT	GRCh37
NC_000016.8:g.167376_167377delinsCT	NCBI36
NG_000006.1:g.38240_38241delinsCT
NG_059186.1:g.5727_5728delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.395_396delinsCT MANE Select	ENSP00000322421.5:p.Ser132=
ENST00000397797.1:c.299_300delinsCT	ENSP00000380899.1:p.Ser100=
ENST00000472694.1:n.531_532delinsCT
NM_000558.4:c.395_396delinsCT	NP_000549.1:p.Ser132=
NM_000558.5:c.395_396delinsCT MANE Select	NP_000549.1:p.Ser132=