Canonical Allele Identifier: CA16619352
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419503
ClinVar RCV Id: RCV000482881
dbSNP Id: rs1064793917

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611856_57611862del , CM000673.2:g.57611856_57611862del GRCh38
NC_000011.9:g.57379329_57379335del , CM000673.1:g.57379329_57379335del GRCh37
NC_000011.8:g.57135905_57135911del NCBI36
NG_009625.1:g.19303_19309del , LRG_105:g.19303_19309del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.1169_1175del MANE Select ENSP00000278407.4:p.Lys390SerfsTer5
ENST00000528996.2:c.*66_*72del ENSP00000431226.2:n.*66_*72del
ENST00000531605.2:c.*945_*951del ENSP00000503752.1:n.*945_*951del
ENST00000619430.2:c.965_971del ENSP00000478572.2:p.Lys322SerfsTer5
ENST00000676670.1:c.1169_1175del ENSP00000504807.1:p.Lys390SerfsTer5
ENST00000676741.1:n.2251_2257del
ENST00000677624.1:c.*589_*595del ENSP00000503979.1:n.*589_*595del
ENST00000677625.1:c.1115_1121del ENSP00000502857.1:p.Lys372SerfsTer5
ENST00000677856.1:n.1422_1428del
ENST00000677915.1:c.*66_*72del ENSP00000503118.1:n.*66_*72del
ENST00000678533.1:c.*723_*729del ENSP00000503873.1:n.*723_*729del
ENST00000678592.1:c.*109_*115del ENSP00000504424.1:n.*109_*115del
ENST00000278407.8:c.1169_1175del ENSP00000278407.4:p.Lys390SerfsTer5
ENST00000340687.10:c.1058_1064del ENSP00000341861.6:p.Lys353SerfsTer5
ENST00000378323.8:c.1184_1190del ENSP00000367574.4:p.Lys395SerfsTer5
ENST00000378324.6:c.1013_1019del ENSP00000367575.2:p.Lys338SerfsTer5
ENST00000403558.1:c.1298_1304del ENSP00000384420.1:p.Lys433SerfsTer5
ENST00000528996.1:c.370_376del ENSP00000431226.1:n.370_376del
ENST00000530113.1:n.626_632del
ENST00000531133.5:c.670_676del ENSP00000435431.1:n.670_676del
ENST00000531797.5:c.*194_*200del ENSP00000432554.1:n.*194_*200del
ENST00000619430.1:c.349-49_349-43del ENSP00000478572.1:n.349-49_349-43del
NM_000062.2:c.1169_1175del , LRG_105t1:c.1169_1175del NP_000053.2:p.Lys390SerfsTer5
NM_001032295.1:c.1169_1175del NP_001027466.1:p.Lys390SerfsTer5
NM_000062.3:c.1169_1175del MANE Select NP_000053.2:p.Lys390SerfsTer5
NM_001032295.2:c.1169_1175del NP_001027466.1:p.Lys390SerfsTer5