Canonical Allele Identifier: CA620304283
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1309712240
gnomAD v2: 16-227322-TC-T
gnomAD v3: 16-177323-TC-T
gnomAD v4: 16-177323-TC-T
MyVariant Identifiers: chr16:g.227323del (hg19) chr16:g.177324del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177327del , CM000678.2:g.177327del GRCh38
NC_000016.9:g.227326del , CM000678.1:g.227326del GRCh37
NC_000016.8:g.167326del NCBI36
NG_000006.1:g.38190del
NG_059186.1:g.5677del

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.345del MANE Select ENSP00000322421.5:p.Ala116ProfsTer18
ENST00000397797.1:c.249del ENSP00000380899.1:p.Ala84ProfsTer18
ENST00000472694.1:n.481del
NM_000558.4:c.345del NP_000549.1:p.Ala116ProfsTer18
NM_000558.5:c.345del MANE Select NP_000549.1:p.Ala116ProfsTer18
Search 100 bp 5'
Search 100 bp 3'