Canonical Allele Identifier: CA2649174147
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909925-C-CTT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909927_173909928dup , CM000663.2:g.173909927_173909928dup GRCh38
NC_000001.10:g.173879065_173879066dup , CM000663.1:g.173879065_173879066dup GRCh37
NC_000001.9:g.172145688_172145689dup NCBI36
NG_012462.1:g.12452_12453dup , LRG_577:g.12452_12453dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.778_779dup MANE Select ENSP00000356671.3:p.Phe261SerfsTer24
ENST00000367698.3:c.778_779dup ENSP00000356671.3:p.Phe261SerfsTer24
ENST00000487183.1:n.429_430dup
ENST00000617423.4:c.559+1937_559+1938dup ENSP00000478688.1:n.559+1937_559+1938dup
NM_000488.3:c.778_779dup , LRG_577t1:c.778_779dup NP_000479.1:p.Phe261SerfsTer24
XM_005245198.2:c.634_635dup XP_005245255.1:p.Phe213SerfsTer24
NM_001365052.1:c.634_635dup NP_001351981.1:p.Phe213SerfsTer24
NM_000488.4:c.778_779dup MANE Select NP_000479.1:p.Phe261SerfsTer24
NM_001365052.2:c.634_635dup NP_001351981.1:p.Phe213SerfsTer24
NM_001386302.1:c.901_902dup NP_001373231.1:p.Phe302SerfsTer24
NM_001386303.1:c.859_860dup NP_001373232.1:p.Phe288SerfsTer24
NM_001386304.1:c.757_758dup NP_001373233.1:p.Phe254SerfsTer24
NM_001386305.1:c.763-42_763-41dup NP_001373234.1:n.763-42_763-41dup
NM_001386306.1:c.562_563dup NP_001373235.1:p.Phe189SerfsTer24
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