Canonical Allele Identifier: CA913190268

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 626356
• ClinVar RCV Id: RCV000768695
• dbSNP Id: rs1565170287

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602070_57602073del , CM000673.2:g.57602070_57602073del	GRCh38
NC_000011.9:g.57369543_57369546del , CM000673.1:g.57369543_57369546del	GRCh37
NC_000011.8:g.57126119_57126122del	NCBI36
NG_009625.1:g.9517_9520del , LRG_105:g.9517_9520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.586_589del MANE Select	ENSP00000278407.4:p.Ile196SerfsTer14
ENST00000528996.2:c.58+3742_58+3745del	ENSP00000431226.2:n.58+3742_58+3745del
ENST00000531605.2:c.87_90del	ENSP00000503752.1:p.Ser30LeufsTer?
ENST00000619430.2:c.586_589del	ENSP00000478572.2:p.Ile196SerfsTer14
ENST00000676670.1:c.586_589del	ENSP00000504807.1:p.Ile196SerfsTer14
ENST00000676741.1:n.1668_1671del
ENST00000677275.1:n.573_576del
ENST00000677624.1:c.586_589del	ENSP00000503979.1:p.Ile196SerfsTer14
ENST00000677625.1:c.586_589del	ENSP00000502857.1:p.Ile196SerfsTer14
ENST00000677856.1:n.645_648del
ENST00000677915.1:c.586_589del	ENSP00000503118.1:p.Ile196SerfsTer14
ENST00000678533.1:c.87_90del	ENSP00000503873.1:p.Ser30LeufsTer?
ENST00000678592.1:c.586_589del	ENSP00000504424.1:p.Ile196SerfsTer14
ENST00000278407.8:c.586_589del	ENSP00000278407.4:p.Ile196SerfsTer14
ENST00000340687.10:c.586_589del	ENSP00000341861.6:p.Ile196SerfsTer14
ENST00000378323.8:c.601_604del	ENSP00000367574.4:p.Ile201SerfsTer14
ENST00000378324.6:c.430_433del	ENSP00000367575.2:p.Ile144SerfsTer14
ENST00000403558.1:c.688_691del	ENSP00000384420.1:p.Ile230SerfsTer14
ENST00000531133.5:c.87_90del	ENSP00000435431.1:p.Ser30LeufsTer?
ENST00000531605.1:n.26_29del
ENST00000531797.5:c.87_90del	ENSP00000432554.1:p.Ser30LeufsTer?
ENST00000619430.1:c.348+1895_348+1898del	ENSP00000478572.1:n.348+1895_348+1898del
NM_000062.2:c.586_589del , LRG_105t1:c.586_589del	NP_000053.2:p.Ile196SerfsTer14
NM_001032295.1:c.586_589del	NP_001027466.1:p.Ile196SerfsTer14
NM_000062.3:c.586_589del MANE Select	NP_000053.2:p.Ile196SerfsTer14
NM_001032295.2:c.586_589del	NP_001027466.1:p.Ile196SerfsTer14