Canonical Allele Identifier: CA915948104

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 690350
• ClinVar RCV Id: RCV000851277
• dbSNP Id: rs1590823884

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602084dup , CM000673.2:g.57602084dup	GRCh38
NC_000011.9:g.57369557dup , CM000673.1:g.57369557dup	GRCh37
NC_000011.8:g.57126133dup	NCBI36
NG_009625.1:g.9531dup , LRG_105:g.9531dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.600dup MANE Select	ENSP00000278407.4:p.Lys201GlnfsTer?
ENST00000528996.2:c.58+3756dup	ENSP00000431226.2:n.58+3756dup
ENST00000531605.2:c.101dup	ENSP00000503752.1:p.Arg35LysfsTer?
ENST00000619430.2:c.600dup	ENSP00000478572.2:p.Lys201GlnfsTer?
ENST00000676670.1:c.600dup	ENSP00000504807.1:p.Lys201GlnfsTer?
ENST00000676741.1:n.1682dup
ENST00000677275.1:n.587dup
ENST00000677624.1:c.600dup	ENSP00000503979.1:p.Lys201GlnfsTer?
ENST00000677625.1:c.600dup	ENSP00000502857.1:p.Lys201GlnfsTer?
ENST00000677856.1:n.659dup
ENST00000677915.1:c.600dup	ENSP00000503118.1:p.Lys201GlnfsTer?
ENST00000678533.1:c.101dup	ENSP00000503873.1:p.Arg35LysfsTer?
ENST00000678592.1:c.600dup	ENSP00000504424.1:p.Lys201GlnfsTer?
ENST00000278407.8:c.600dup	ENSP00000278407.4:p.Lys201GlnfsTer?
ENST00000340687.10:c.600dup	ENSP00000341861.6:p.Lys201GlnfsTer?
ENST00000378323.8:c.615dup	ENSP00000367574.4:p.Lys206GlnfsTer?
ENST00000378324.6:c.444dup	ENSP00000367575.2:p.Lys149GlnfsTer?
ENST00000403558.1:c.702dup	ENSP00000384420.1:p.Lys235GlnfsTer?
ENST00000531133.5:c.101dup	ENSP00000435431.1:p.Arg35LysfsTer?
ENST00000531605.1:n.40dup
ENST00000531797.5:c.101dup	ENSP00000432554.1:p.Arg35LysfsTer?
ENST00000619430.1:c.348+1909dup	ENSP00000478572.1:n.348+1909dup
NM_000062.2:c.600dup , LRG_105t1:c.600dup	NP_000053.2:p.Lys201GlnfsTer?
NM_001032295.1:c.600dup	NP_001027466.1:p.Lys201GlnfsTer?
NM_000062.3:c.600dup MANE Select	NP_000053.2:p.Lys201GlnfsTer?
NM_001032295.2:c.600dup	NP_001027466.1:p.Lys201GlnfsTer?