Canonical Allele Identifier: CA2586964400
Gene: SERPINC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909557_173909558del , CM000663.2:g.173909557_173909558del GRCh38
NC_000001.10:g.173878695_173878696del , CM000663.1:g.173878695_173878696del GRCh37
NC_000001.9:g.172145318_172145319del NCBI36
NG_012462.1:g.12822_12823del , LRG_577:g.12822_12823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1148_1149del MANE Select ENSP00000356671.3:p.Leu383ProfsTer10
ENST00000367698.3:c.1148_1149del ENSP00000356671.3:p.Leu383ProfsTer10
ENST00000617423.4:c.560-2064_560-2063del ENSP00000478688.1:n.560-2064_560-2063del
NM_000488.3:c.1148_1149del , LRG_577t1:c.1148_1149del NP_000479.1:p.Leu383ProfsTer10
XM_005245198.2:c.1004_1005del XP_005245255.1:p.Leu335ProfsTer10
NM_001365052.1:c.1004_1005del NP_001351981.1:p.Leu335ProfsTer10
NM_000488.4:c.1148_1149del MANE Select NP_000479.1:p.Leu383ProfsTer10
NM_001365052.2:c.1004_1005del NP_001351981.1:p.Leu335ProfsTer10
NM_001386302.1:c.1271_1272del NP_001373231.1:p.Leu424ProfsTer10
NM_001386303.1:c.1229_1230del NP_001373232.1:p.Leu410ProfsTer10
NM_001386304.1:c.1127_1128del NP_001373233.1:p.Leu376ProfsTer10
NM_001386305.1:c.1091_1092del NP_001373234.1:p.Leu364ProfsTer10
NM_001386306.1:c.932_933del NP_001373235.1:p.Leu311ProfsTer10
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