Canonical Allele Identifier: CA1139664214

Gene: HBA1

Linked Data

• ClinVar Variation Id: 15879
• ClinVar RCV Id: RCV000017225

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177116_177136dup , CM000678.2:g.177116_177136dup	GRCh38
NC_000016.9:g.227115_227135dup , CM000678.1:g.227115_227135dup	GRCh37
NC_000016.8:g.167115_167135dup	NCBI36
NG_000006.1:g.37979_37999dup
NG_059186.1:g.5466_5486dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.283_300+3dup
ENST00000397797.1:c.187_204+3dup
ENST00000472694.1:n.419_436+3dup
ENST00000487791.1:n.252_272dup
NM_000558.4:c.283_300+3dup
NM_000558.5:c.283_300+3dup