Canonical Allele Identifier: CA2580084326
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1770819
ClinVar RCV Id: RCV002383476

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614438_57614471del , CM000673.2:g.57614438_57614471del GRCh38
NC_000011.9:g.57381911_57381944del , CM000673.1:g.57381911_57381944del GRCh37
NC_000011.8:g.57138487_57138520del NCBI36
NG_009625.1:g.21885_21918del , LRG_105:g.21885_21918del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.1360_1393del MANE Select ENSP00000278407.4:p.Val454ProfsTer?
ENST00000528996.2:c.*257_*290del ENSP00000431226.2:n.*257_*290del
ENST00000531605.2:c.*1136_*1169del ENSP00000503752.1:n.*1136_*1169del
ENST00000619430.2:c.1156_1189del ENSP00000478572.2:p.Val386ProfsTer?
ENST00000676670.1:c.1360_1393del ENSP00000504807.1:p.Val454ProfsTer?
ENST00000676741.1:n.2442_2475del
ENST00000677624.1:c.*780_*813del ENSP00000503979.1:n.*780_*813del
ENST00000677625.1:c.1306_1339del ENSP00000502857.1:p.Val436ProfsTer?
ENST00000677856.1:n.1613_1646del
ENST00000677915.1:c.*257_*290del ENSP00000503118.1:n.*257_*290del
ENST00000678533.1:c.*914_*947del ENSP00000503873.1:n.*914_*947del
ENST00000678592.1:c.*300_*333del ENSP00000504424.1:n.*300_*333del
ENST00000278407.8:c.1360_1393del ENSP00000278407.4:p.Val454ProfsTer?
ENST00000340687.10:c.1249_1282del ENSP00000341861.6:p.Val417ProfsTer?
ENST00000378323.8:c.1375_1408del ENSP00000367574.4:p.Val459ProfsTer?
ENST00000378324.6:c.1204_1237del ENSP00000367575.2:p.Val402ProfsTer?
ENST00000403558.1:c.1489_1522del ENSP00000384420.1:p.Val497ProfsTer?
ENST00000528996.1:c.561_594del ENSP00000431226.1:n.561_594del
ENST00000530113.1:n.817_850del
ENST00000531133.5:c.861_894del ENSP00000435431.1:n.861_894del
ENST00000531797.5:c.*385_*418del ENSP00000432554.1:n.*385_*418del
ENST00000619430.1:c.491_524del ENSP00000478572.1:n.491_524del
NM_000062.2:c.1360_1393del , LRG_105t1:c.1360_1393del NP_000053.2:p.Val454ProfsTer?
NM_001032295.1:c.1360_1393del NP_001027466.1:p.Val454ProfsTer?
NM_000062.3:c.1360_1393del MANE Select NP_000053.2:p.Val454ProfsTer?
NM_001032295.2:c.1360_1393del NP_001027466.1:p.Val454ProfsTer?