Canonical Allele Identifier: CA7329925

Gene: SERPINA3

Linked Data

• dbSNP Id: rs1555386336
• ExAC: 14:95085829 A / ACCCCACAT
• gnomAD v2: 14-95085829-A-ACCCCACAT
• gnomAD v4: 14-94619492-A-ACCCCACAT
• MyVariant Identifiers: chr14:g.95085830_95085831insCCCACATC (hg19) ; chr14:g.95085829_95085830insCCCCACAT (hg19) ; chr14:g.94619492_94619493insCCCCACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619494_94619501dup , CM000676.2:g.94619494_94619501dup	GRCh38
NC_000014.8:g.95085831_95085838dup , CM000676.1:g.95085831_95085838dup	GRCh37
NC_000014.7:g.94155584_94155591dup	NCBI36
NG_012879.1:g.12118_12125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.917+26_917+33dup MANE Select	ENSP00000376793.3:n.917+26_917+33dup
ENST00000393078.4:c.917+26_917+33dup	ENSP00000376793.3:n.917+26_917+33dup
ENST00000393080.8:c.917+26_917+33dup	ENSP00000376795.4:n.917+26_917+33dup
ENST00000467132.5:c.917+26_917+33dup	ENSP00000450540.1:n.917+26_917+33dup
ENST00000482740.2:c.263+26_263+33dup	ENSP00000451119.1:n.263+26_263+33dup
ENST00000553947.1:c.1880+26_1880+33dup
ENST00000556388.1:n.58-2847_58-2840dup
ENST00000556968.2:c.644-2847_644-2840dup	ENSP00000452476.1:n.644-2847_644-2840dup
ENST00000621603.1:c.162_169dup
NM_001085.4:c.917+26_917+33dup	NP_001076.2:n.917+26_917+33dup
NM_001085.5:c.917+26_917+33dup MANE Select	NP_001076.2:n.917+26_917+33dup
NM_001384672.1:c.917+26_917+33dup	NP_001371601.1:n.917+26_917+33dup
NM_001384673.1:c.917+26_917+33dup	NP_001371602.1:n.917+26_917+33dup
NM_001384674.1:c.917+26_917+33dup	NP_001371603.1:n.917+26_917+33dup