Canonical Allele Identifier: CA2200883036
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177013_177016delinsCAAG , CM000678.2:g.177013_177016delinsCAAG GRCh38
NC_000016.9:g.227012_227015delinsCAAG , CM000678.1:g.227012_227015delinsCAAG GRCh37
NC_000016.8:g.167012_167015delinsCAAG NCBI36
NG_000006.1:g.37876_37879delinsCAAG
NG_059186.1:g.5363_5366delinsCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.180_183delinsCAAG MANE Select ENSP00000322421.5:p.Gly60=
ENST00000397797.1:c.84_87delinsCAAG ENSP00000380899.1:p.Gly28=
ENST00000472694.1:n.316_319delinsCAAG
ENST00000487791.1:n.149_152delinsCAAG
NM_000558.4:c.180_183delinsCAAG NP_000549.1:p.Gly60=
NM_000558.5:c.180_183delinsCAAG MANE Select NP_000549.1:p.Gly60=
Search 100 bp 5'
Search 100 bp 3'