Canonical Allele Identifier: CA2582342989
Gene: SERPINC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903948_173903952del , CM000663.2:g.173903948_173903952del GRCh38
NC_000001.10:g.173873086_173873090del , CM000663.1:g.173873086_173873090del GRCh37
NC_000001.9:g.172139709_172139713del NCBI36
NG_012462.1:g.18430_18434del , LRG_577:g.18430_18434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1335_1339del MANE Select ENSP00000356671.3:p.Arg445SerfsTer18
ENST00000367698.3:c.1335_1339del ENSP00000356671.3:p.Arg445SerfsTer18
ENST00000617423.4:c.720_724del ENSP00000478688.1:p.Arg240SerfsTer18
NM_000488.3:c.1335_1339del , LRG_577t1:c.1335_1339del NP_000479.1:p.Arg445SerfsTer18
XM_005245198.2:c.1191_1195del XP_005245255.1:p.Arg397SerfsTer18
NM_001365052.1:c.1191_1195del NP_001351981.1:p.Arg397SerfsTer18
NM_000488.4:c.1335_1339del MANE Select NP_000479.1:p.Arg445SerfsTer18
NM_001365052.2:c.1191_1195del NP_001351981.1:p.Arg397SerfsTer18
NM_001386302.1:c.1458_1462del NP_001373231.1:p.Arg486SerfsTer18
NM_001386303.1:c.1416_1420del NP_001373232.1:p.Arg472SerfsTer18
NM_001386304.1:c.1314_1318del NP_001373233.1:p.Arg438SerfsTer18
NM_001386305.1:c.1278_1282del NP_001373234.1:p.Arg426SerfsTer18
NM_001386306.1:c.1119_1123del NP_001373235.1:p.Arg373SerfsTer18
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