Canonical Allele Identifier: CA2630739878

Gene: HBA1

Linked Data

• gnomAD v4: 16-177096-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177100_177101del , CM000678.2:g.177100_177101del	GRCh38
NC_000016.9:g.227099_227100del , CM000678.1:g.227099_227100del	GRCh37
NC_000016.8:g.167099_167100del	NCBI36
NG_000006.1:g.37963_37964del
NG_059186.1:g.5450_5451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.267_268del MANE Select	ENSP00000322421.5:p.His90GlnfsTer?
ENST00000397797.1:c.171_172del	ENSP00000380899.1:p.His58GlnfsTer?
ENST00000472694.1:n.403_404del
ENST00000487791.1:n.236_237del
NM_000558.4:c.267_268del	NP_000549.1:p.His90GlnfsTer?
NM_000558.5:c.267_268del MANE Select	NP_000549.1:p.His90GlnfsTer?