Canonical Allele Identifier: CA2649174155
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909933-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909935dup , CM000663.2:g.173909935dup GRCh38
NC_000001.10:g.173879073dup , CM000663.1:g.173879073dup GRCh37
NC_000001.9:g.172145696dup NCBI36
NG_012462.1:g.12445dup , LRG_577:g.12445dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.771dup MANE Select ENSP00000356671.3:p.Lys258GlufsTer7
ENST00000367698.3:c.771dup ENSP00000356671.3:p.Lys258GlufsTer7
ENST00000487183.1:n.422dup
ENST00000617423.4:c.559+1930dup ENSP00000478688.1:n.559+1930dup
NM_000488.3:c.771dup , LRG_577t1:c.771dup NP_000479.1:p.Lys258GlufsTer7
XM_005245198.2:c.627dup XP_005245255.1:p.Lys210GlufsTer7
NM_001365052.1:c.627dup NP_001351981.1:p.Lys210GlufsTer7
NM_000488.4:c.771dup MANE Select NP_000479.1:p.Lys258GlufsTer7
NM_001365052.2:c.627dup NP_001351981.1:p.Lys210GlufsTer7
NM_001386302.1:c.894dup NP_001373231.1:p.Lys299GlufsTer7
NM_001386303.1:c.852dup NP_001373232.1:p.Lys285GlufsTer7
NM_001386304.1:c.750dup NP_001373233.1:p.Lys251GlufsTer7
NM_001386305.1:c.763-49dup NP_001373234.1:n.763-49dup
NM_001386306.1:c.555dup NP_001373235.1:p.Lys186GlufsTer7
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