Canonical Allele Identifier: CA915943670
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627141
ClinVar RCV Id: RCV000851891
dbSNP Id: rs1572088823
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909901_173909905del , CM000663.2:g.173909901_173909905del GRCh38
NC_000001.10:g.173879039_173879043del , CM000663.1:g.173879039_173879043del GRCh37
NC_000001.9:g.172145662_172145666del NCBI36
NG_012462.1:g.12475_12479del , LRG_577:g.12475_12479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.801_805del MANE Select ENSP00000356671.3:p.Lys268ThrfsTer6
ENST00000367698.3:c.801_805del ENSP00000356671.3:p.Lys268ThrfsTer6
ENST00000487183.1:n.452_456del
ENST00000617423.4:c.559+1960_559+1964del ENSP00000478688.1:n.559+1960_559+1964del
NM_000488.3:c.801_805del , LRG_577t1:c.801_805del NP_000479.1:p.Lys268ThrfsTer6
XM_005245198.2:c.657_661del XP_005245255.1:p.Lys220ThrfsTer6
NM_001365052.1:c.657_661del NP_001351981.1:p.Lys220ThrfsTer6
NM_000488.4:c.801_805del MANE Select NP_000479.1:p.Lys268ThrfsTer6
NM_001365052.2:c.657_661del NP_001351981.1:p.Lys220ThrfsTer6
NM_001386302.1:c.924_928del NP_001373231.1:p.Lys309ThrfsTer6
NM_001386303.1:c.882_886del NP_001373232.1:p.Lys295ThrfsTer6
NM_001386304.1:c.780_784del NP_001373233.1:p.Lys261ThrfsTer6
NM_001386305.1:c.763-19_763-15del NP_001373234.1:n.763-19_763-15del
NM_001386306.1:c.585_589del NP_001373235.1:p.Lys196ThrfsTer6
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