Canonical Allele Identifier: CA2499214317
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18046
ClinVar RCV Id: RCV000019662
dbSNP Id: rs2102772927

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903903_173903911del , CM000663.2:g.173903903_173903911del GRCh38
NC_000001.10:g.173873041_173873049del , CM000663.1:g.173873041_173873049del GRCh37
NC_000001.9:g.172139664_172139672del NCBI36
NG_012462.1:g.18468_18476del , LRG_577:g.18468_18476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1373_1381del MANE Select ENSP00000356671.3:p.Val458_Pro461delinsAla
ENST00000367698.3:c.1373_1381del ENSP00000356671.3:p.Val458_Pro461delinsAla
ENST00000617423.4:c.758_766del ENSP00000478688.1:p.Val253_Pro256delinsAla
NM_000488.3:c.1373_1381del , LRG_577t1:c.1373_1381del NP_000479.1:p.Val458_Pro461delinsAla
XM_005245198.2:c.1229_1237del XP_005245255.1:p.Val410_Pro413delinsAla
NM_001365052.1:c.1229_1237del NP_001351981.1:p.Val410_Pro413delinsAla
NM_000488.4:c.1373_1381del MANE Select NP_000479.1:p.Val458_Pro461delinsAla
NM_001365052.2:c.1229_1237del NP_001351981.1:p.Val410_Pro413delinsAla
NM_001386302.1:c.1496_1504del NP_001373231.1:p.Val499_Pro502delinsAla
NM_001386303.1:c.1454_1462del NP_001373232.1:p.Val485_Pro488delinsAla
NM_001386304.1:c.1352_1360del NP_001373233.1:p.Val451_Pro454delinsAla
NM_001386305.1:c.1316_1324del NP_001373234.1:p.Val439_Pro442delinsAla
NM_001386306.1:c.1157_1165del NP_001373235.1:p.Val386_Pro389delinsAla