Canonical Allele Identifier: CA2649174130
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173903974-TTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903975_173903976del , CM000663.2:g.173903975_173903976del GRCh38
NC_000001.10:g.173873113_173873114del , CM000663.1:g.173873113_173873114del GRCh37
NC_000001.9:g.172139736_172139737del NCBI36
NG_012462.1:g.18403_18404del , LRG_577:g.18403_18404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1308_1309del MANE Select ENSP00000356671.3:p.Asn437GlnfsTer27
ENST00000367698.3:c.1308_1309del ENSP00000356671.3:p.Asn437GlnfsTer27
ENST00000617423.4:c.693_694del ENSP00000478688.1:p.Asn232GlnfsTer27
NM_000488.3:c.1308_1309del , LRG_577t1:c.1308_1309del NP_000479.1:p.Asn437GlnfsTer27
XM_005245198.2:c.1164_1165del XP_005245255.1:p.Asn389GlnfsTer27
NM_001365052.1:c.1164_1165del NP_001351981.1:p.Asn389GlnfsTer27
NM_000488.4:c.1308_1309del MANE Select NP_000479.1:p.Asn437GlnfsTer27
NM_001365052.2:c.1164_1165del NP_001351981.1:p.Asn389GlnfsTer27
NM_001386302.1:c.1431_1432del NP_001373231.1:p.Asn478GlnfsTer27
NM_001386303.1:c.1389_1390del NP_001373232.1:p.Asn464GlnfsTer27
NM_001386304.1:c.1287_1288del NP_001373233.1:p.Asn430GlnfsTer27
NM_001386305.1:c.1251_1252del NP_001373234.1:p.Asn418GlnfsTer27
NM_001386306.1:c.1092_1093del NP_001373235.1:p.Asn365GlnfsTer27
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