Canonical Allele Identifier: CA2573147265
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458527
ClinVar RCV Id: RCV001949529
dbSNP Id: rs2135328012

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614439del , CM000673.2:g.57614439del GRCh38
NC_000011.9:g.57381912del , CM000673.1:g.57381912del GRCh37
NC_000011.8:g.57138488del NCBI36
NG_009625.1:g.21886del , LRG_105:g.21886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.1361del MANE Select ENSP00000278407.4:p.Val454GlyfsTer?
ENST00000528996.2:c.*258del ENSP00000431226.2:n.*258del
ENST00000531605.2:c.*1137del ENSP00000503752.1:n.*1137del
ENST00000619430.2:c.1157del ENSP00000478572.2:p.Val386GlyfsTer?
ENST00000676670.1:c.1361del ENSP00000504807.1:p.Val454GlyfsTer?
ENST00000676741.1:n.2443del
ENST00000677624.1:c.*781del ENSP00000503979.1:n.*781del
ENST00000677625.1:c.1307del ENSP00000502857.1:p.Val436GlyfsTer?
ENST00000677856.1:n.1614del
ENST00000677915.1:c.*258del ENSP00000503118.1:n.*258del
ENST00000678533.1:c.*915del ENSP00000503873.1:n.*915del
ENST00000678592.1:c.*301del ENSP00000504424.1:n.*301del
ENST00000278407.8:c.1361del ENSP00000278407.4:p.Val454GlyfsTer?
ENST00000340687.10:c.1250del ENSP00000341861.6:p.Val417GlyfsTer?
ENST00000378323.8:c.1376del ENSP00000367574.4:p.Val459GlyfsTer?
ENST00000378324.6:c.1205del ENSP00000367575.2:p.Val402GlyfsTer?
ENST00000403558.1:c.1490del ENSP00000384420.1:p.Val497GlyfsTer?
ENST00000528996.1:c.562del ENSP00000431226.1:n.562del
ENST00000530113.1:n.818del
ENST00000531133.5:c.862del ENSP00000435431.1:n.862del
ENST00000531797.5:c.*386del ENSP00000432554.1:n.*386del
ENST00000619430.1:c.492del ENSP00000478572.1:n.492del
NM_000062.2:c.1361del , LRG_105t1:c.1361del NP_000053.2:p.Val454GlyfsTer?
NM_001032295.1:c.1361del NP_001027466.1:p.Val454GlyfsTer?
NM_000062.3:c.1361del MANE Select NP_000053.2:p.Val454GlyfsTer?
NM_001032295.2:c.1361del NP_001027466.1:p.Val454GlyfsTer?