Canonical Allele Identifier: CA2582301469
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909681_173909686del , CM000663.2:g.173909681_173909686del GRCh38
NC_000001.10:g.173878819_173878824del , CM000663.1:g.173878819_173878824del GRCh37
NC_000001.9:g.172145442_172145447del NCBI36
NG_012462.1:g.12693_12698del , LRG_577:g.12693_12698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1019_1024del MANE Select ENSP00000356671.3:p.Leu340_Glu342delinsGln
ENST00000367698.3:c.1019_1024del ENSP00000356671.3:p.Leu340_Glu342delinsGln
ENST00000617423.4:c.559+2178_559+2183del ENSP00000478688.1:n.559+2178_559+2183del
NM_000488.3:c.1019_1024del , LRG_577t1:c.1019_1024del NP_000479.1:p.Leu340_Glu342delinsGln
XM_005245198.2:c.875_880del XP_005245255.1:p.Leu292_Glu294delinsGln
NM_001365052.1:c.875_880del NP_001351981.1:p.Leu292_Glu294delinsGln
NM_000488.4:c.1019_1024del MANE Select NP_000479.1:p.Leu340_Glu342delinsGln
NM_001365052.2:c.875_880del NP_001351981.1:p.Leu292_Glu294delinsGln
NM_001386302.1:c.1142_1147del NP_001373231.1:p.Leu381_Glu383delinsGln
NM_001386303.1:c.1100_1105del NP_001373232.1:p.Leu367_Glu369delinsGln
NM_001386304.1:c.998_1003del NP_001373233.1:p.Leu333_Glu335delinsGln
NM_001386305.1:c.962_967del NP_001373234.1:p.Leu321_Glu323delinsGln
NM_001386306.1:c.803_808del NP_001373235.1:p.Leu268_Glu270delinsGln