Canonical Allele Identifier: CA915943675
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 661362
ClinVar RCV Id: RCV000818759
dbSNP Id: rs1572090368

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173912006_173912011del , CM000663.2:g.173912006_173912011del GRCh38
NC_000001.10:g.173881144_173881149del , CM000663.1:g.173881144_173881149del GRCh37
NC_000001.9:g.172147767_172147772del NCBI36
NG_012462.1:g.10371_10376del , LRG_577:g.10371_10376del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.415_420del MANE Select ENSP00000356671.3:p.Lys139_Phe140del
ENST00000367698.3:c.415_420del ENSP00000356671.3:p.Lys139_Phe140del
ENST00000487183.1:n.120_125del
ENST00000494024.1:n.641_646del
ENST00000617423.4:c.415_420del ENSP00000478688.1:p.Lys139_Phe140del
NM_000488.3:c.415_420del , LRG_577t1:c.415_420del NP_000479.1:p.Lys139_Phe140del
XM_005245198.2:c.271_276del XP_005245255.1:p.Lys91_Phe92del
NM_001365052.1:c.271_276del NP_001351981.1:p.Lys91_Phe92del
NM_000488.4:c.415_420del MANE Select NP_000479.1:p.Lys139_Phe140del
NM_001365052.2:c.271_276del NP_001351981.1:p.Lys91_Phe92del
NM_001386302.1:c.415_420del NP_001373231.1:p.Lys139_Phe140del
NM_001386303.1:c.496_501del NP_001373232.1:p.Lys166_Phe167del
NM_001386304.1:c.415_420del NP_001373233.1:p.Lys139_Phe140del
NM_001386305.1:c.415_420del NP_001373234.1:p.Lys139_Phe140del
NM_001386306.1:c.409-1117_409-1112del NP_001373235.1:n.409-1117_409-1112del