Canonical Allele Identifier: CA645294067
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426410
ClinVar RCV Id: RCV000489334
dbSNP Id: rs1085307611

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57606454del , CM000673.2:g.57606454del GRCh38
NC_000011.9:g.57373927del , CM000673.1:g.57373927del GRCh37
NC_000011.8:g.57130503del NCBI36
NG_009625.1:g.13901del , LRG_105:g.13901del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.936del MANE Select ENSP00000278407.4:p.His314ThrfsTer7
ENST00000528996.2:c.59-5272del ENSP00000431226.2:n.59-5272del
ENST00000531605.2:c.*712del ENSP00000503752.1:n.*712del
ENST00000619430.2:c.732del ENSP00000478572.2:p.His246ThrfsTer7
ENST00000676670.1:c.936del ENSP00000504807.1:p.His314ThrfsTer7
ENST00000676741.1:n.2018del
ENST00000677624.1:c.*356del ENSP00000503979.1:n.*356del
ENST00000677625.1:c.936del ENSP00000502857.1:p.His314ThrfsTer7
ENST00000677856.1:n.1189del
ENST00000677915.1:c.685+4285del ENSP00000503118.1:n.685+4285del
ENST00000678533.1:c.*490del ENSP00000503873.1:n.*490del
ENST00000678592.1:c.936del ENSP00000504424.1:p.His314ThrfsTer7
ENST00000278407.8:c.936del ENSP00000278407.4:p.His314ThrfsTer7
ENST00000340687.10:c.936del ENSP00000341861.6:p.His314ThrfsTer7
ENST00000378323.8:c.951del ENSP00000367574.4:p.His319ThrfsTer7
ENST00000378324.6:c.780del ENSP00000367575.2:p.His262ThrfsTer7
ENST00000403558.1:c.1065del ENSP00000384420.1:p.His357ThrfsTer7
ENST00000528996.1:c.48del ENSP00000431226.1:p.His18ThrfsTer7
ENST00000531133.5:c.437del ENSP00000435431.1:n.437del
ENST00000531797.5:c.*54+4285del ENSP00000432554.1:n.*54+4285del
ENST00000619430.1:c.349-5451del ENSP00000478572.1:n.349-5451del
NM_000062.2:c.936del , LRG_105t1:c.936del NP_000053.2:p.His314ThrfsTer7
NM_001032295.1:c.936del NP_001027466.1:p.His314ThrfsTer7
NM_000062.3:c.936del MANE Select NP_000053.2:p.His314ThrfsTer7
NM_001032295.2:c.936del NP_001027466.1:p.His314ThrfsTer7