Canonical Allele Identifier: CA2575615679

Gene: SERPINA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619308del , CM000676.2:g.94619308del	GRCh38
NC_000014.8:g.95085645del , CM000676.1:g.95085645del	GRCh37
NC_000014.7:g.94155398del	NCBI36
NG_012879.1:g.11932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.757del MANE Select	ENSP00000376793.3:p.Tyr253ThrfsTer14
ENST00000393078.4:c.757del	ENSP00000376793.3:p.Tyr253ThrfsTer14
ENST00000393080.8:c.757del	ENSP00000376795.4:p.Tyr253ThrfsTer14
ENST00000467132.5:c.757del	ENSP00000450540.1:p.Tyr253ThrfsTer14
ENST00000482740.2:c.103del	ENSP00000451119.1:p.Tyr35ThrfsTer14
ENST00000553947.1:c.1720del
ENST00000555820.1:c.757del	ENSP00000452246.3:p.Tyr253ThrfsTer14
ENST00000556388.1:n.58-3033del
ENST00000556968.2:c.644-3033del	ENSP00000452476.1:n.644-3033del
NM_001085.4:c.757del	NP_001076.2:p.Tyr253ThrfsTer14
NM_001085.5:c.757del MANE Select	NP_001076.2:p.Tyr253ThrfsTer14
NM_001384672.1:c.757del	NP_001371601.1:p.Tyr253ThrfsTer14
NM_001384673.1:c.757del	NP_001371602.1:p.Tyr253ThrfsTer14
NM_001384674.1:c.757del	NP_001371603.1:p.Tyr253ThrfsTer14