Canonical Allele Identifier: CA125690
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15708
ClinVar RCV Id: RCV000017002
dbSNP Id: rs34667595

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176947_176948insGAA , CM000678.2:g.176947_176948insGAA GRCh38
NC_000016.9:g.226946_226947insGAA , CM000678.1:g.226946_226947insGAA GRCh37
NC_000016.8:g.166946_166947insGAA NCBI36
NG_000006.1:g.37810_37811insGAA
NG_059186.1:g.5297_5298insGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.114_115insGAA MANE Select ENSP00000322421.5:p.Pro38_Thr39insGlu
ENST00000397797.1:c.18_19insGAA ENSP00000380899.1:p.Pro6_Thr7insGlu
ENST00000472694.1:n.250_251insGAA
ENST00000487791.1:n.83_84insGAA
NM_000558.4:c.114_115insGAA NP_000549.1:p.Pro38_Thr39insGlu
NM_000558.5:c.114_115insGAA MANE Select NP_000549.1:p.Pro38_Thr39insGlu