Canonical Allele Identifier: CA2697559097

Gene: C1S

Linked Data

• ClinVar Variation Id: 2696183
• ClinVar RCV Id: RCV003542859

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7062917_7062918dup , CM000674.2:g.7062917_7062918dup	GRCh38
NC_000012.11:g.7170221_7170222dup , CM000674.1:g.7170221_7170222dup	GRCh37
NC_000012.10:g.7040482_7040483dup	NCBI36
NG_011694.1:g.7242_7243dup , LRG_25:g.7242_7243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.826_827dup
ENST00000488701.2:n.758_759dup
ENST00000495053.2:n.571_572dup
ENST00000698563.1:n.784_785dup
ENST00000698564.1:n.757_758dup
ENST00000698565.1:n.977_978dup
ENST00000360817.10:c.241_242dup MANE Select	ENSP00000354057.5:p.Leu82GlyfsTer28
ENST00000328916.7:c.241_242dup	ENSP00000328173.3:p.Leu82GlyfsTer28
ENST00000360817.9:c.241_242dup	ENSP00000354057.5:p.Leu82GlyfsTer28
ENST00000402681.7:c.-261_-260dup	ENSP00000384171.3:n.-261_-260dup
ENST00000403949.5:c.241_242dup	ENSP00000384464.1:p.Leu82GlyfsTer28
ENST00000406697.5:c.241_242dup	ENSP00000385035.1:p.Leu82GlyfsTer28
ENST00000413211.5:c.241_242dup	ENSP00000406643.1:p.Leu82GlyfsTer?
ENST00000423384.5:c.241_242dup	ENSP00000399892.1:p.Leu82GlyfsTer?
ENST00000443875.5:c.315_316dup
ENST00000541647.1:n.223_224dup
ENST00000542978.1:c.-111+255_-111+256dup	ENSP00000442298.1:n.-111+255_-111+256dup
ENST00000617865.4:c.187_188dup	ENSP00000484657.1:p.Leu64GlyfsTer28
NM_001734.3:c.241_242dup , LRG_25t1:c.241_242dup	NP_001725.1:p.Leu82GlyfsTer28
NM_201442.2:c.241_242dup	NP_958850.1:p.Leu82GlyfsTer28
XM_005253760.1:c.241_242dup	XP_005253817.1:p.Leu82GlyfsTer28
NM_001346850.1:c.-261_-260dup	NP_001333779.1:n.-261_-260dup
NM_001734.4:c.241_242dup	NP_001725.1:p.Leu82GlyfsTer28
NM_201442.3:c.241_242dup	NP_958850.1:p.Leu82GlyfsTer28
XM_005253760.2:c.241_242dup	XP_005253817.1:p.Leu82GlyfsTer28
NM_001734.5:c.241_242dup MANE Select	NP_001725.1:p.Leu82GlyfsTer28
NM_001346850.2:c.-261_-260dup	NP_001333779.1:n.-261_-260dup
NM_201442.4:c.241_242dup	NP_958850.1:p.Leu82GlyfsTer28