Canonical Allele Identifier: CA487625173

Gene: SERPINA3

Linked Data

• dbSNP Id: rs750533164
• MyVariant Identifiers: chr14:g.95085548_95085549insCCCAAGATACTCATCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619211_94619212insCCCAAGATACTCATCA , CM000676.2:g.94619211_94619212insCCCAAGATACTCATCA	GRCh38
NC_000014.8:g.95085548_95085549insCCCAAGATACTCATCA , CM000676.1:g.95085548_95085549insCCCAAGATACTCATCA	GRCh37
NC_000014.7:g.94155301_94155302insCCCAAGATACTCATCA	NCBI36
NG_012879.1:g.11835_11836insCCCAAGATACTCATCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.660_661insCCCAAGATACTCATCA MANE Select	ENSP00000376793.3:p.Phe221ProfsTer7
ENST00000393078.4:c.660_661insCCCAAGATACTCATCA	ENSP00000376793.3:p.Phe221ProfsTer7
ENST00000393080.8:c.660_661insCCCAAGATACTCATCA	ENSP00000376795.4:p.Phe221ProfsTer7
ENST00000467132.5:c.660_661insCCCAAGATACTCATCA	ENSP00000450540.1:p.Phe221ProfsTer7
ENST00000482740.2:c.6_7insCCCAAGATACTCATCA	ENSP00000451119.1:p.Phe3ProfsTer7
ENST00000553947.1:c.1623_1624insCCCAAGATACTCATCA
ENST00000555820.1:c.660_661insCCCAAGATACTCATCA	ENSP00000452246.3:p.Phe221ProfsTer7
ENST00000556388.1:n.58-3130_58-3129insCCCAAGATACTCATCA
ENST00000556968.2:c.644-3130_644-3129insCCCAAGATACTCATCA	ENSP00000452476.1:n.644-3130_644-3129insCCCAAGATACTCATCA
NM_001085.4:c.660_661insCCCAAGATACTCATCA	NP_001076.2:p.Phe221ProfsTer7
NM_001085.5:c.660_661insCCCAAGATACTCATCA MANE Select	NP_001076.2:p.Phe221ProfsTer7
NM_001384672.1:c.660_661insCCCAAGATACTCATCA	NP_001371601.1:p.Phe221ProfsTer7
NM_001384673.1:c.660_661insCCCAAGATACTCATCA	NP_001371602.1:p.Phe221ProfsTer7
NM_001384674.1:c.660_661insCCCAAGATACTCATCA	NP_001371603.1:p.Phe221ProfsTer7