Canonical Allele Identifier: CA2580615700

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2030864
• ClinVar RCV Id: RCV002872020

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600090_57600093dup , CM000673.2:g.57600090_57600093dup	GRCh38
NC_000011.9:g.57367563_57367566dup , CM000673.1:g.57367563_57367566dup	GRCh37
NC_000011.8:g.57124139_57124142dup	NCBI36
NG_009625.1:g.7537_7540dup , LRG_105:g.7537_7540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.263_266dup MANE Select	ENSP00000278407.4:p.Gln89HisfsTer?
ENST00000528996.2:c.58+1762_58+1765dup	ENSP00000431226.2:n.58+1762_58+1765dup
ENST00000531605.2:c.51+1769_51+1772dup	ENSP00000503752.1:n.51+1769_51+1772dup
ENST00000619430.2:c.263_266dup	ENSP00000478572.2:p.Gln89HisfsTer?
ENST00000676670.1:c.263_266dup	ENSP00000504807.1:p.Gln89HisfsTer?
ENST00000676741.1:n.1345_1348dup
ENST00000677275.1:n.250_253dup
ENST00000677624.1:c.263_266dup	ENSP00000503979.1:p.Gln89HisfsTer?
ENST00000677625.1:c.263_266dup	ENSP00000502857.1:p.Gln89HisfsTer?
ENST00000677856.1:n.322_325dup
ENST00000677915.1:c.263_266dup	ENSP00000503118.1:p.Gln89HisfsTer?
ENST00000678533.1:c.51+1769_51+1772dup	ENSP00000503873.1:n.51+1769_51+1772dup
ENST00000678592.1:c.263_266dup	ENSP00000504424.1:p.Gln89HisfsTer?
ENST00000278407.8:c.263_266dup	ENSP00000278407.4:p.Gln89HisfsTer?
ENST00000340687.10:c.263_266dup	ENSP00000341861.6:p.Gln89HisfsTer?
ENST00000378323.8:c.278_281dup	ENSP00000367574.4:p.Gln94HisfsTer?
ENST00000378324.6:c.107_110dup	ENSP00000367575.2:p.Gln37HisfsTer?
ENST00000403558.1:c.365_368dup	ENSP00000384420.1:p.Gln123HisfsTer?
ENST00000405496.5:c.263_266dup	ENSP00000384561.1:p.Gln89HisfsTer?
ENST00000531133.5:c.51+1769_51+1772dup	ENSP00000435431.1:n.51+1769_51+1772dup
ENST00000531797.5:c.51+1769_51+1772dup	ENSP00000432554.1:n.51+1769_51+1772dup
ENST00000619430.1:c.263_266dup	ENSP00000478572.1:p.Gln89HisfsTer?
NM_000062.2:c.263_266dup , LRG_105t1:c.263_266dup	NP_000053.2:p.Gln89HisfsTer?
NM_001032295.1:c.263_266dup	NP_001027466.1:p.Gln89HisfsTer?
NM_000062.3:c.263_266dup MANE Select	NP_000053.2:p.Gln89HisfsTer?
NM_001032295.2:c.263_266dup	NP_001027466.1:p.Gln89HisfsTer?