Canonical Allele Identifier: CA7770248

Gene: HBA1

Linked Data

• ClinVar Variation Id: 619842
• ClinVar RCV Id: RCV000759777 ; RCV002282356 ; RCV002485969 ; RCV003413547
• dbSNP Id: rs767911847
• ExAC: 16:227068 AC / A
• gnomAD v2: 16-227068-AC-A
• gnomAD v3: 16-177069-AC-A
• gnomAD v4: 16-177069-AC-A
• MyVariant Identifiers: chr16:g.227069del (hg19) ; chr16:g.177070del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177070del , CM000678.2:g.177070del	GRCh38
NC_000016.9:g.227069del , CM000678.1:g.227069del	GRCh37
NC_000016.8:g.167069del	NCBI36
NG_000006.1:g.37933del
NG_059186.1:g.5420del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.237del MANE Select	ENSP00000322421.5:p.Asn79LysfsTer6
ENST00000397797.1:c.141del	ENSP00000380899.1:p.Asn47LysfsTer6
ENST00000472694.1:n.373del
ENST00000487791.1:n.206del
NM_000558.4:c.237del	NP_000549.1:p.Asn79LysfsTer6
NM_000558.5:c.237del MANE Select	NP_000549.1:p.Asn79LysfsTer6