Canonical Allele Identifier: CA2626330357

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619427-C-CTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619427_94619428insTGG , CM000676.2:g.94619427_94619428insTGG	GRCh38
NC_000014.8:g.95085764_95085765insTGG , CM000676.1:g.95085764_95085765insTGG	GRCh37
NC_000014.7:g.94155517_94155518insTGG	NCBI36
NG_012879.1:g.12051_12052insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.876_877insTGG MANE Select	ENSP00000376793.3:p.Leu292_Pro293insTrp
ENST00000393078.4:c.876_877insTGG	ENSP00000376793.3:p.Leu292_Pro293insTrp
ENST00000393080.8:c.876_877insTGG	ENSP00000376795.4:p.Leu292_Pro293insTrp
ENST00000467132.5:c.876_877insTGG	ENSP00000450540.1:p.Leu292_Pro293insTrp
ENST00000482740.2:c.222_223insTGG	ENSP00000451119.1:p.Leu74_Pro75insTrp
ENST00000553947.1:c.1839_1840insTGG
ENST00000555820.1:c.876_877insTGG	ENSP00000452246.3:p.Leu292_Pro293insTrp
ENST00000556388.1:n.58-2914_58-2913insTGG
ENST00000556968.2:c.644-2914_644-2913insTGG	ENSP00000452476.1:n.644-2914_644-2913insTGG
ENST00000621603.1:c.95_96insTGG
NM_001085.4:c.876_877insTGG	NP_001076.2:p.Leu292_Pro293insTrp
NM_001085.5:c.876_877insTGG MANE Select	NP_001076.2:p.Leu292_Pro293insTrp
NM_001384672.1:c.876_877insTGG	NP_001371601.1:p.Leu292_Pro293insTrp
NM_001384673.1:c.876_877insTGG	NP_001371602.1:p.Leu292_Pro293insTrp
NM_001384674.1:c.876_877insTGG	NP_001371603.1:p.Leu292_Pro293insTrp