Canonical Allele Identifier: CA276416492
Gene: HBA1 HGNC NCBI
gnomAD v2:
16:226777 A / AT
gnomAD v3:
16:176778 A / AT
gnomAD v4:
chr16-176778-A-AT
Joint Max Group AF 0.0000025 (NFE)
Exomes Max Group AF 0.00000197 (NFE)
ClinVar RCV:
RCV003120151
ClinVar Variation:
2428550
dbSNP:
281864571
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176778_176779insT , CM000678.2:g.176778_176779insT GRCh38
NC_000016.9:g.226777_226778insT , CM000678.1:g.226777_226778insT GRCh37
NC_000016.8:g.166777_166778insT NCBI36
NG_000006.1:g.37641_37642insT
NG_059186.1:g.5128_5129insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.62_63insT MANE Select ENSP00000322421.5:p.Ala22ArgfsTer?
ENST00000397797.1:c.-2+16_-2+17insT ENSP00000380899.1:n.-2+16_-2+17insT
ENST00000472694.1:n.81_82insT
ENST00000487791.1:n.31_32insT
NM_000558.4:c.62_63insT NP_000549.1:p.Ala22ArgfsTer?
NM_000558.5:c.62_63insT MANE Select NP_000549.1:p.Ala22ArgfsTer?
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