Canonical Allele Identifier: CA2582342992
Gene: SERPINC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903955_173903959del , CM000663.2:g.173903955_173903959del GRCh38
NC_000001.10:g.173873093_173873097del , CM000663.1:g.173873093_173873097del GRCh37
NC_000001.9:g.172139716_172139720del NCBI36
NG_012462.1:g.18420_18424del , LRG_577:g.18420_18424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1325_1329del MANE Select ENSP00000356671.3:p.Val442AspfsTer21
ENST00000367698.3:c.1325_1329del ENSP00000356671.3:p.Val442AspfsTer21
ENST00000617423.4:c.710_714del ENSP00000478688.1:p.Val237AspfsTer21
NM_000488.3:c.1325_1329del , LRG_577t1:c.1325_1329del NP_000479.1:p.Val442AspfsTer21
XM_005245198.2:c.1181_1185del XP_005245255.1:p.Val394AspfsTer21
NM_001365052.1:c.1181_1185del NP_001351981.1:p.Val394AspfsTer21
NM_000488.4:c.1325_1329del MANE Select NP_000479.1:p.Val442AspfsTer21
NM_001365052.2:c.1181_1185del NP_001351981.1:p.Val394AspfsTer21
NM_001386302.1:c.1448_1452del NP_001373231.1:p.Val483AspfsTer21
NM_001386303.1:c.1406_1410del NP_001373232.1:p.Val469AspfsTer21
NM_001386304.1:c.1304_1308del NP_001373233.1:p.Val435AspfsTer21
NM_001386305.1:c.1268_1272del NP_001373234.1:p.Val423AspfsTer21
NM_001386306.1:c.1109_1113del NP_001373235.1:p.Val370AspfsTer21
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