Canonical Allele Identifier: CA265884736

Gene: SERPINA3

Linked Data

• dbSNP Id: rs866911348
• MyVariant Identifiers: chr14:g.95085547_95085553del (hg19) ; chr14:g.94619211_94619217del (hg38) ; chr14:g.94619210_94619216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619212_94619218del , CM000676.2:g.94619212_94619218del	GRCh38
NC_000014.8:g.95085549_95085555del , CM000676.1:g.95085549_95085555del	GRCh37
NC_000014.7:g.94155302_94155308del	NCBI36
NG_012879.1:g.11836_11842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.661_667del MANE Select	ENSP00000376793.3:p.Phe221ProfsTer11
ENST00000393078.4:c.661_667del	ENSP00000376793.3:p.Phe221ProfsTer11
ENST00000393080.8:c.661_667del	ENSP00000376795.4:p.Phe221ProfsTer11
ENST00000467132.5:c.661_667del	ENSP00000450540.1:p.Phe221ProfsTer11
ENST00000482740.2:c.7_13del	ENSP00000451119.1:p.Phe3ProfsTer11
ENST00000553947.1:c.1624_1630del
ENST00000555820.1:c.661_667del	ENSP00000452246.3:p.Phe221ProfsTer11
ENST00000556388.1:n.58-3129_58-3123del
ENST00000556968.2:c.644-3129_644-3123del	ENSP00000452476.1:n.644-3129_644-3123del
NM_001085.4:c.661_667del	NP_001076.2:p.Phe221ProfsTer11
NM_001085.5:c.661_667del MANE Select	NP_001076.2:p.Phe221ProfsTer11
NM_001384672.1:c.661_667del	NP_001371601.1:p.Phe221ProfsTer11
NM_001384673.1:c.661_667del	NP_001371602.1:p.Phe221ProfsTer11
NM_001384674.1:c.661_667del	NP_001371603.1:p.Phe221ProfsTer11