Canonical Allele Identifier: CA2586964407
Gene: SERPINC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909896del , CM000663.2:g.173909896del GRCh38
NC_000001.10:g.173879034del , CM000663.1:g.173879034del GRCh37
NC_000001.9:g.172145657del NCBI36
NG_012462.1:g.12483del , LRG_577:g.12483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.809del MANE Select ENSP00000356671.3:p.Leu270ArgfsTer14
ENST00000367698.3:c.809del ENSP00000356671.3:p.Leu270ArgfsTer14
ENST00000487183.1:n.460del
ENST00000617423.4:c.559+1968del ENSP00000478688.1:n.559+1968del
NM_000488.3:c.809del , LRG_577t1:c.809del NP_000479.1:p.Leu270ArgfsTer14
XM_005245198.2:c.665del XP_005245255.1:p.Leu222ArgfsTer14
NM_001365052.1:c.665del NP_001351981.1:p.Leu222ArgfsTer14
NM_000488.4:c.809del MANE Select NP_000479.1:p.Leu270ArgfsTer14
NM_001365052.2:c.665del NP_001351981.1:p.Leu222ArgfsTer14
NM_001386302.1:c.932del NP_001373231.1:p.Leu311ArgfsTer14
NM_001386303.1:c.890del NP_001373232.1:p.Leu297ArgfsTer14
NM_001386304.1:c.788del NP_001373233.1:p.Leu263ArgfsTer14
NM_001386305.1:c.763-11del NP_001373234.1:n.763-11del
NM_001386306.1:c.593del NP_001373235.1:p.Leu198ArgfsTer14
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