Canonical Allele Identifier: CA913190274
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626355
ClinVar RCV Id: RCV000768694
dbSNP Id: rs1565173309

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611793del , CM000673.2:g.57611793del GRCh38
NC_000011.9:g.57379266del , CM000673.1:g.57379266del GRCh37
NC_000011.8:g.57135842del NCBI36
NG_009625.1:g.19240del , LRG_105:g.19240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.1106del MANE Select ENSP00000278407.4:p.Asp369AlafsTer28
ENST00000528996.2:c.*3del ENSP00000431226.2:n.*3del
ENST00000531605.2:c.*882del ENSP00000503752.1:n.*882del
ENST00000619430.2:c.902del ENSP00000478572.2:p.Asp301AlafsTer28
ENST00000676670.1:c.1106del ENSP00000504807.1:p.Asp369AlafsTer28
ENST00000676741.1:n.2188del
ENST00000677624.1:c.*526del ENSP00000503979.1:n.*526del
ENST00000677625.1:c.1052del ENSP00000502857.1:p.Asp351AlafsTer28
ENST00000677856.1:n.1359del
ENST00000677915.1:c.*3del ENSP00000503118.1:n.*3del
ENST00000678533.1:c.*660del ENSP00000503873.1:n.*660del
ENST00000678592.1:c.*46del ENSP00000504424.1:n.*46del
ENST00000278407.8:c.1106del ENSP00000278407.4:p.Asp369AlafsTer28
ENST00000340687.10:c.1030-35del ENSP00000341861.6:n.1030-35del
ENST00000378323.8:c.1121del ENSP00000367574.4:p.Asp374AlafsTer28
ENST00000378324.6:c.950del ENSP00000367575.2:p.Asp317AlafsTer28
ENST00000403558.1:c.1235del ENSP00000384420.1:p.Asp412AlafsTer28
ENST00000528996.1:c.307del ENSP00000431226.1:n.307del
ENST00000530113.1:n.563del
ENST00000531133.5:c.607del ENSP00000435431.1:n.607del
ENST00000531797.5:c.*131del ENSP00000432554.1:n.*131del
ENST00000619430.1:c.349-112del ENSP00000478572.1:n.349-112del
NM_000062.2:c.1106del , LRG_105t1:c.1106del NP_000053.2:p.Asp369AlafsTer28
NM_001032295.1:c.1106del NP_001027466.1:p.Asp369AlafsTer28
NM_000062.3:c.1106del MANE Select NP_000053.2:p.Asp369AlafsTer28
NM_001032295.2:c.1106del NP_001027466.1:p.Asp369AlafsTer28