Canonical Allele Identifier: CA1975523591

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 979214
• ClinVar RCV Id: RCV001258389
• dbSNP Id: rs1945331796

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600141_57600144del , CM000673.2:g.57600141_57600144del	GRCh38
NC_000011.9:g.57367614_57367617del , CM000673.1:g.57367614_57367617del	GRCh37
NC_000011.8:g.57124190_57124193del	NCBI36
NG_009625.1:g.7588_7591del , LRG_105:g.7588_7591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.314_317del MANE Select	ENSP00000278407.4:p.Pro105LeufsTer?
ENST00000528996.2:c.58+1813_58+1816del	ENSP00000431226.2:n.58+1813_58+1816del
ENST00000531605.2:c.51+1820_51+1823del	ENSP00000503752.1:n.51+1820_51+1823del
ENST00000619430.2:c.314_317del	ENSP00000478572.2:p.Pro105LeufsTer?
ENST00000676670.1:c.314_317del	ENSP00000504807.1:p.Pro105LeufsTer?
ENST00000676741.1:n.1396_1399del
ENST00000677275.1:n.301_304del
ENST00000677624.1:c.314_317del	ENSP00000503979.1:p.Pro105LeufsTer?
ENST00000677625.1:c.314_317del	ENSP00000502857.1:p.Pro105LeufsTer?
ENST00000677856.1:n.373_376del
ENST00000677915.1:c.314_317del	ENSP00000503118.1:p.Pro105LeufsTer?
ENST00000678533.1:c.51+1820_51+1823del	ENSP00000503873.1:n.51+1820_51+1823del
ENST00000678592.1:c.314_317del	ENSP00000504424.1:p.Pro105LeufsTer?
ENST00000278407.8:c.314_317del	ENSP00000278407.4:p.Pro105LeufsTer?
ENST00000340687.10:c.314_317del	ENSP00000341861.6:p.Pro105LeufsTer?
ENST00000378323.8:c.329_332del	ENSP00000367574.4:p.Pro110LeufsTer?
ENST00000378324.6:c.158_161del	ENSP00000367575.2:p.Pro53LeufsTer?
ENST00000403558.1:c.416_419del	ENSP00000384420.1:p.Pro139LeufsTer?
ENST00000405496.5:c.314_317del	ENSP00000384561.1:p.Pro105LeufsTer?
ENST00000531133.5:c.51+1820_51+1823del	ENSP00000435431.1:n.51+1820_51+1823del
ENST00000531797.5:c.51+1820_51+1823del	ENSP00000432554.1:n.51+1820_51+1823del
ENST00000619430.1:c.314_317del	ENSP00000478572.1:p.Pro105LeufsTer?
NM_000062.2:c.314_317del , LRG_105t1:c.314_317del	NP_000053.2:p.Pro105LeufsTer?
NM_001032295.1:c.314_317del	NP_001027466.1:p.Pro105LeufsTer?
NM_000062.3:c.314_317del MANE Select	NP_000053.2:p.Pro105LeufsTer?
NM_001032295.2:c.314_317del	NP_001027466.1:p.Pro105LeufsTer?