Canonical Allele Identifier: CA232865
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143223
ClinVar RCV Id: RCV000132762
dbSNP Id: rs34277525
MyVariant Identifiers: chr16:g.227028_227039dupGCGCTGACCAAC (hg19) chr16:g.177029_177040dupGCGCTGACCAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177031_177042dup , CM000678.2:g.177031_177042dup GRCh38
NC_000016.9:g.227030_227041dup , CM000678.1:g.227030_227041dup GRCh37
NC_000016.8:g.167030_167041dup NCBI36
NG_000006.1:g.37894_37905dup
NG_059186.1:g.5381_5392dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.198_209dup MANE Select ENSP00000322421.5:p.Ala70_Val71insLeuThrAsnAla
ENST00000397797.1:c.102_113dup ENSP00000380899.1:p.Ala38_Val39insLeuThrAsnAla
ENST00000472694.1:n.334_345dup
ENST00000487791.1:n.167_178dup
NM_000558.4:c.198_209dup NP_000549.1:p.Ala70_Val71insLeuThrAsnAla
NM_000558.5:c.198_209dup MANE Select NP_000549.1:p.Ala70_Val71insLeuThrAsnAla
Search 100 bp 5'
Search 100 bp 3'