Canonical Allele Identifier: CA2626330358

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619447-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619450_94619453del , CM000676.2:g.94619450_94619453del	GRCh38
NC_000014.8:g.95085787_95085790del , CM000676.1:g.95085787_95085790del	GRCh37
NC_000014.7:g.94155540_94155543del	NCBI36
NG_012879.1:g.12074_12077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.899_902del MANE Select	ENSP00000376793.3:p.Arg300ThrfsTer8
ENST00000393078.4:c.899_902del	ENSP00000376793.3:p.Arg300ThrfsTer8
ENST00000393080.8:c.899_902del	ENSP00000376795.4:p.Arg300ThrfsTer8
ENST00000467132.5:c.899_902del	ENSP00000450540.1:p.Arg300ThrfsTer8
ENST00000482740.2:c.245_248del	ENSP00000451119.1:p.Arg82ThrfsTer8
ENST00000553947.1:c.1862_1865del
ENST00000555820.1:c.899_902del	ENSP00000452246.3:p.Arg300ThrfsTer?
ENST00000556388.1:n.58-2891_58-2888del
ENST00000556968.2:c.644-2891_644-2888del	ENSP00000452476.1:n.644-2891_644-2888del
ENST00000621603.1:c.118_121del
NM_001085.4:c.899_902del	NP_001076.2:p.Arg300ThrfsTer8
NM_001085.5:c.899_902del MANE Select	NP_001076.2:p.Arg300ThrfsTer8
NM_001384672.1:c.899_902del	NP_001371601.1:p.Arg300ThrfsTer8
NM_001384673.1:c.899_902del	NP_001371602.1:p.Arg300ThrfsTer8
NM_001384674.1:c.899_902del	NP_001371603.1:p.Arg300ThrfsTer8