Canonical Allele Identifier: CA2582179132
Gene: SERPINC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909904_173909907del , CM000663.2:g.173909904_173909907del GRCh38
NC_000001.10:g.173879042_173879045del , CM000663.1:g.173879042_173879045del GRCh37
NC_000001.9:g.172145665_172145668del NCBI36
NG_012462.1:g.12478_12481del , LRG_577:g.12478_12481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.804_807del MANE Select ENSP00000356671.3:p.Lys268AsnfsTer15
ENST00000367698.3:c.804_807del ENSP00000356671.3:p.Lys268AsnfsTer15
ENST00000487183.1:n.455_458del
ENST00000617423.4:c.559+1963_559+1966del ENSP00000478688.1:n.559+1963_559+1966del
NM_000488.3:c.804_807del , LRG_577t1:c.804_807del NP_000479.1:p.Lys268AsnfsTer15
XM_005245198.2:c.660_663del XP_005245255.1:p.Lys220AsnfsTer15
NM_001365052.1:c.660_663del NP_001351981.1:p.Lys220AsnfsTer15
NM_000488.4:c.804_807del MANE Select NP_000479.1:p.Lys268AsnfsTer15
NM_001365052.2:c.660_663del NP_001351981.1:p.Lys220AsnfsTer15
NM_001386302.1:c.927_930del NP_001373231.1:p.Lys309AsnfsTer15
NM_001386303.1:c.885_888del NP_001373232.1:p.Lys295AsnfsTer15
NM_001386304.1:c.783_786del NP_001373233.1:p.Lys261AsnfsTer15
NM_001386305.1:c.763-16_763-13del NP_001373234.1:n.763-16_763-13del
NM_001386306.1:c.588_591del NP_001373235.1:p.Lys196AsnfsTer15
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