Canonical Allele Identifier: CA276417146
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs866906416
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177325_177326delinsTT , CM000678.2:g.177325_177326delinsTT GRCh38
NC_000016.9:g.227324_227325delinsTT , CM000678.1:g.227324_227325delinsTT GRCh37
NC_000016.8:g.167324_167325delinsTT NCBI36
NG_000006.1:g.38188_38189delinsTT
NG_059186.1:g.5675_5676delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.343_344delinsTT MANE Select ENSP00000322421.5:p.Pro115Phe
ENST00000397797.1:c.247_248delinsTT ENSP00000380899.1:p.Pro83Phe
ENST00000472694.1:n.479_480delinsTT
NM_000558.4:c.343_344delinsTT NP_000549.1:p.Pro115Phe
NM_000558.5:c.343_344delinsTT MANE Select NP_000549.1:p.Pro115Phe
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Search 100 bp 3'