Canonical Allele Identifier: CA2200883172
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177206_177207delinsCG , CM000678.2:g.177206_177207delinsCG GRCh38
NC_000016.9:g.227205_227206delinsCG , CM000678.1:g.227205_227206delinsCG GRCh37
NC_000016.8:g.167205_167206delinsCG NCBI36
NG_000006.1:g.38069_38070delinsCG
NG_059186.1:g.5556_5557delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.300+73_300+74delinsCG MANE Select ENSP00000322421.5:n.300+73_300+74delinsCG
ENST00000397797.1:c.204+73_204+74delinsCG ENSP00000380899.1:n.204+73_204+74delinsCG
ENST00000472694.1:n.436+73_436+74delinsCG
ENST00000487791.1:n.342_343delinsCG
NM_000558.4:c.300+73_300+74delinsCG NP_000549.1:n.300+73_300+74delinsCG
NM_000558.5:c.300+73_300+74delinsCG MANE Select NP_000549.1:n.300+73_300+74delinsCG