Canonical Allele Identifier: CA7329893

Gene: SERPINA3

Linked Data

• dbSNP Id: rs777757935
• ExAC: 14:95085687 AAGTACACAGGCAATGCC / A
• gnomAD v2: 14-95085687-AAGTACACAGGCAATGCC-A
• gnomAD v4: 14-94619350-AAGTACACAGGCAATGCC-A
• MyVariant Identifiers: chr14:g.95085688_95085704del (hg19) ; chr14:g.94619351_94619367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619353_94619369del , CM000676.2:g.94619353_94619369del	GRCh38
NC_000014.8:g.95085690_95085706del , CM000676.1:g.95085690_95085706del	GRCh37
NC_000014.7:g.94155443_94155459del	NCBI36
NG_012879.1:g.11977_11993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.802_818del MANE Select	ENSP00000376793.3:p.Tyr268ArgfsTer7
ENST00000393078.4:c.802_818del	ENSP00000376793.3:p.Tyr268ArgfsTer7
ENST00000393080.8:c.802_818del	ENSP00000376795.4:p.Tyr268ArgfsTer7
ENST00000467132.5:c.802_818del	ENSP00000450540.1:p.Tyr268ArgfsTer7
ENST00000482740.2:c.148_164del	ENSP00000451119.1:p.Tyr50ArgfsTer7
ENST00000553947.1:c.1765_1781del
ENST00000555820.1:c.802_818del	ENSP00000452246.3:p.Tyr268ArgfsTer7
ENST00000556388.1:n.58-2988_58-2972del
ENST00000556968.2:c.644-2988_644-2972del	ENSP00000452476.1:n.644-2988_644-2972del
ENST00000621603.1:c.21_37del
NM_001085.4:c.802_818del	NP_001076.2:p.Tyr268ArgfsTer7
NM_001085.5:c.802_818del MANE Select	NP_001076.2:p.Tyr268ArgfsTer7
NM_001384672.1:c.802_818del	NP_001371601.1:p.Tyr268ArgfsTer7
NM_001384673.1:c.802_818del	NP_001371602.1:p.Tyr268ArgfsTer7
NM_001384674.1:c.802_818del	NP_001371603.1:p.Tyr268ArgfsTer7