Canonical Allele Identifier: CA2156074052

Gene: SERPINA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619241_94619242delinsGT , CM000676.2:g.94619241_94619242delinsGT	GRCh38
NC_000014.8:g.95085578_95085579delinsGT , CM000676.1:g.95085578_95085579delinsGT	GRCh37
NC_000014.7:g.94155331_94155332delinsGT	NCBI36
NG_012879.1:g.11865_11866delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.690_691delinsGT MANE Select	ENSP00000376793.3:p.Arg230=
ENST00000393078.4:c.690_691delinsGT	ENSP00000376793.3:p.Arg230=
ENST00000393080.8:c.690_691delinsGT	ENSP00000376795.4:p.Arg230=
ENST00000467132.5:c.690_691delinsGT	ENSP00000450540.1:p.Arg230=
ENST00000482740.2:c.36_37delinsGT	ENSP00000451119.1:p.Arg12=
ENST00000553947.1:c.1653_1654delinsGT
ENST00000555820.1:c.690_691delinsGT	ENSP00000452246.3:p.Arg230=
ENST00000556388.1:n.58-3100_58-3099delinsGT
ENST00000556968.2:c.644-3100_644-3099delinsGT	ENSP00000452476.1:n.644-3100_644-3099delinsGT
NM_001085.4:c.690_691delinsGT	NP_001076.2:p.Arg230=
NM_001085.5:c.690_691delinsGT MANE Select	NP_001076.2:p.Arg230=
NM_001384672.1:c.690_691delinsGT	NP_001371601.1:p.Arg230=
NM_001384673.1:c.690_691delinsGT	NP_001371602.1:p.Arg230=
NM_001384674.1:c.690_691delinsGT	NP_001371603.1:p.Arg230=