Canonical Allele Identifier: CA2674636464
Gene: SKIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516698_95516703del , CM000667.2:g.95516698_95516703del GRCh38
NC_000005.9:g.94852402_94852407del , CM000667.1:g.94852402_94852407del GRCh37
NC_000005.8:g.94878158_94878163del NCBI36
NG_023414.1:g.43303_43308del , LRG_173:g.43303_43308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2939_2944del
ENST00000513232.2:c.*1364_*1369del ENSP00000422749.2:n.*1364_*1369del
ENST00000698450.1:n.1868_1873del
ENST00000698451.1:n.2069_2074del
ENST00000698452.1:n.3140_3145del
ENST00000698453.1:c.2442-117_2442-112del ENSP00000513735.1:n.2442-117_2442-112del
ENST00000698454.1:c.2475_2480del ENSP00000513736.1:p.Trp825_Ala827delinsCys
ENST00000698455.1:c.*2625_*2630del ENSP00000513737.1:n.*2625_*2630del
ENST00000698456.1:c.*1342_*1347del ENSP00000513738.1:n.*1342_*1347del
ENST00000698457.1:c.2274_2279del ENSP00000513739.1:p.Trp758_Ala760delinsCys
ENST00000698458.1:c.2478-117_2478-112del ENSP00000513740.1:n.2478-117_2478-112del
ENST00000698459.1:c.2484_2489del ENSP00000513741.1:p.Trp828_Ala830delinsCys
ENST00000698460.1:c.*279-117_*279-112del ENSP00000513742.1:n.*279-117_*279-112del
ENST00000698461.1:n.2939_2944del
ENST00000698462.1:n.2859_2864del
ENST00000698468.1:n.3140_3145del
ENST00000698469.1:c.*1996_*2001del ENSP00000513743.1:n.*1996_*2001del
ENST00000698470.1:c.*491_*496del ENSP00000513744.1:n.*491_*496del
ENST00000698471.1:n.2939_2944del
ENST00000698472.1:c.*1364_*1369del ENSP00000513745.1:n.*1364_*1369del
ENST00000698473.1:n.2939_2944del
ENST00000698474.1:n.2939_2944del
ENST00000698475.1:n.3024_3029del
ENST00000698476.1:c.2484_2489del ENSP00000513746.1:p.Trp828_Ala830delinsCys
ENST00000698477.1:c.2442-117_2442-112del ENSP00000513747.1:n.2442-117_2442-112del
ENST00000698478.1:n.2939_2944del
ENST00000698479.1:c.2484_2489del ENSP00000513748.1:p.Trp828_Ala830delinsCys
ENST00000698480.1:c.2437-117_2437-112del ENSP00000513749.1:n.2437-117_2437-112del
ENST00000698481.1:c.2437-117_2437-112del ENSP00000513750.1:n.2437-117_2437-112del
ENST00000698482.1:n.2774_2779del
ENST00000698483.1:n.2939_2944del
ENST00000698484.1:c.2484_2489del ENSP00000513751.1:p.Trp828_Ala830delinsCys
ENST00000698485.1:c.2437-117_2437-112del ENSP00000513752.1:n.2437-117_2437-112del
ENST00000698486.1:n.2939_2944del
ENST00000698487.1:c.2484_2489del ENSP00000513753.1:p.Trp828_Ala830delinsCys
ENST00000698488.1:c.2260-117_2260-112del ENSP00000513754.1:n.2260-117_2260-112del
ENST00000698489.1:n.6724_6729del
ENST00000698490.1:c.2484_2489del ENSP00000513755.1:p.Trp828_Ala830delinsCys
ENST00000698492.1:c.*1199_*1204del ENSP00000513756.1:n.*1199_*1204del
ENST00000698493.1:n.2774_2779del
ENST00000698494.1:c.*379_*384del ENSP00000513757.1:n.*379_*384del
ENST00000358746.7:c.2484_2489del MANE Select ENSP00000351596.3:p.Trp828_Ala830delinsCys
ENST00000649566.1:c.2484_2489del ENSP00000497948.1:p.Trp828_Ala830delinsCys
ENST00000358746.6:c.2484_2489del ENSP00000351596.2:p.Trp828_Ala830delinsCys
ENST00000506007.1:n.66_71del
ENST00000507805.5:n.671_676del
NM_014639.3:c.2484_2489del , LRG_173t1:c.2484_2489del NP_055454.1:p.Trp828_Ala830delinsCys
XR_948312.1:n.2753_2758del
XR_001742370.2:n.2756_2761del
NM_014639.4:c.2484_2489del MANE Select NP_055454.1:p.Trp828_Ala830delinsCys