Canonical Allele Identifier: CA718607494
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1490746425
gnomAD v3: 16-177383-GCA-G
gnomAD v4: 16-177383-GCA-G
MyVariant Identifiers: chr16:g.227383_227384del (hg19) chr16:g.177384_177385del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177385_177386del , CM000678.2:g.177385_177386del GRCh38
NC_000016.9:g.227384_227385del , CM000678.1:g.227384_227385del GRCh37
NC_000016.8:g.167384_167385del NCBI36
NG_000006.1:g.38248_38249del
NG_059186.1:g.5735_5736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.403_404del MANE Select ENSP00000322421.5:p.Thr135ArgfsTer?
ENST00000397797.1:c.307_308del ENSP00000380899.1:p.Thr103ArgfsTer?
ENST00000472694.1:n.539_540del
NM_000558.4:c.403_404del NP_000549.1:p.Thr135ArgfsTer?
NM_000558.5:c.403_404del MANE Select NP_000549.1:p.Thr135ArgfsTer?
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