Canonical Allele Identifier: CA2840625516
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177124del , CM000678.2:g.177124del GRCh38
NC_000016.9:g.227123del , CM000678.1:g.227123del GRCh37
NC_000016.8:g.167123del NCBI36
NG_000006.1:g.37987del
NG_059186.1:g.5474del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.291del MANE Select ENSP00000322421.5:p.Asn98ThrfsTer5
ENST00000397797.1:c.195del ENSP00000380899.1:p.Asn66ThrfsTer5
ENST00000472694.1:n.427del
ENST00000487791.1:n.260del
NM_000558.4:c.291del NP_000549.1:p.Asn98ThrfsTer5
NM_000558.5:c.291del MANE Select NP_000549.1:p.Asn98ThrfsTer5