Canonical Allele Identifier: CA2805501932
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176755del , CM000678.2:g.176755del GRCh38
NC_000016.9:g.226754del , CM000678.1:g.226754del GRCh37
NC_000016.8:g.166754del NCBI36
NG_000006.1:g.37618del
NG_059186.1:g.5105del

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.39del MANE Select ENSP00000322421.5:p.Ala14ProfsTer?
ENST00000397797.1:c.-9del ENSP00000380899.1:n.-9del
ENST00000472694.1:n.58del
ENST00000487791.1:n.8del
NM_000558.4:c.39del NP_000549.1:p.Ala14ProfsTer?
NM_000558.5:c.39del MANE Select NP_000549.1:p.Ala14ProfsTer?