Canonical Allele Identifier: CA2573148408

Gene: C1S

Linked Data

• ClinVar Variation Id: 1369281
• ClinVar RCV Id: RCV001894862
• dbSNP Id: rs2135720969

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7062500_7062501delinsTT , CM000674.2:g.7062500_7062501delinsTT	GRCh38
NC_000012.11:g.7169804_7169805delinsTT , CM000674.1:g.7169804_7169805delinsTT	GRCh37
NC_000012.10:g.7040065_7040066delinsTT	NCBI36
NG_011694.1:g.6825_6826delinsTT , LRG_25:g.6825_6826delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473545.2:n.409_410delinsTT
ENST00000488701.2:n.341_342delinsTT
ENST00000495053.2:n.361_362delinsTT
ENST00000698563.1:n.367_368delinsTT
ENST00000698564.1:n.340_341delinsTT
ENST00000698565.1:n.560_561delinsTT
ENST00000360817.10:c.31_32delinsTT MANE Select	ENSP00000354057.5:p.Ala11Leu
ENST00000328916.7:c.31_32delinsTT	ENSP00000328173.3:p.Ala11Leu
ENST00000360817.9:c.31_32delinsTT	ENSP00000354057.5:p.Ala11Leu
ENST00000402681.7:c.-288-390_-288-389delinsTT	ENSP00000384171.3:n.-288-390_-288-389delinsTT
ENST00000403949.5:c.31_32delinsTT	ENSP00000384464.1:p.Ala11Leu
ENST00000406697.5:c.31_32delinsTT	ENSP00000385035.1:p.Ala11Leu
ENST00000413211.5:c.31_32delinsTT	ENSP00000406643.1:p.Ala11Leu
ENST00000423384.5:c.31_32delinsTT	ENSP00000399892.1:p.Ala11Leu
ENST00000443875.5:c.105_106delinsTT
ENST00000488701.1:n.326_327delinsTT
ENST00000541647.1:n.196-390_196-389delinsTT
ENST00000543187.5:n.258_259delinsTT
ENST00000617865.4:c.-24_-23delinsTT	ENSP00000484657.1:n.-24_-23delinsTT
NM_001734.3:c.31_32delinsTT , LRG_25t1:c.31_32delinsTT	NP_001725.1:p.Ala11Leu
NM_201442.2:c.31_32delinsTT	NP_958850.1:p.Ala11Leu
XM_005253760.1:c.31_32delinsTT	XP_005253817.1:p.Ala11Leu
NM_001346850.1:c.-288-390_-288-389delinsTT	NP_001333779.1:n.-288-390_-288-389delinsTT
NM_001734.4:c.31_32delinsTT	NP_001725.1:p.Ala11Leu
NM_201442.3:c.31_32delinsTT	NP_958850.1:p.Ala11Leu
XM_005253760.2:c.31_32delinsTT	XP_005253817.1:p.Ala11Leu
NM_001734.5:c.31_32delinsTT MANE Select	NP_001725.1:p.Ala11Leu
NM_001346850.2:c.-288-390_-288-389delinsTT	NP_001333779.1:n.-288-390_-288-389delinsTT
NM_201442.4:c.31_32delinsTT	NP_958850.1:p.Ala11Leu