Canonical Allele Identifier: CA2630738824

Gene: HBA1

Linked Data

• gnomAD v4: 16-176737-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176739del , CM000678.2:g.176739del	GRCh38
NC_000016.9:g.226738del , CM000678.1:g.226738del	GRCh37
NC_000016.8:g.166738del	NCBI36
NG_000006.1:g.37602del
NG_059186.1:g.5089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.23del MANE Select	ENSP00000322421.5:p.Lys8ArgfsTer?
ENST00000397797.1:c.-25del	ENSP00000380899.1:n.-25del
ENST00000472694.1:n.42del
NM_000558.4:c.23del	NP_000549.1:p.Lys8ArgfsTer?
NM_000558.5:c.23del MANE Select	NP_000549.1:p.Lys8ArgfsTer?