Canonical Allele Identifier: CA2626330352

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619314-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619317del , CM000676.2:g.94619317del	GRCh38
NC_000014.8:g.95085654del , CM000676.1:g.95085654del	GRCh37
NC_000014.7:g.94155407del	NCBI36
NG_012879.1:g.11941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.766del MANE Select	ENSP00000376793.3:p.Asp256ThrfsTer11
ENST00000393078.4:c.766del	ENSP00000376793.3:p.Asp256ThrfsTer11
ENST00000393080.8:c.766del	ENSP00000376795.4:p.Asp256ThrfsTer11
ENST00000467132.5:c.766del	ENSP00000450540.1:p.Asp256ThrfsTer11
ENST00000482740.2:c.112del	ENSP00000451119.1:p.Asp38ThrfsTer11
ENST00000553947.1:c.1729del
ENST00000555820.1:c.766del	ENSP00000452246.3:p.Asp256ThrfsTer11
ENST00000556388.1:n.58-3024del
ENST00000556968.2:c.644-3024del	ENSP00000452476.1:n.644-3024del
NM_001085.4:c.766del	NP_001076.2:p.Asp256ThrfsTer11
NM_001085.5:c.766del MANE Select	NP_001076.2:p.Asp256ThrfsTer11
NM_001384672.1:c.766del	NP_001371601.1:p.Asp256ThrfsTer11
NM_001384673.1:c.766del	NP_001371602.1:p.Asp256ThrfsTer11
NM_001384674.1:c.766del	NP_001371603.1:p.Asp256ThrfsTer11