Canonical Allele Identifier: CA2674636465
Gene: SKIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516711_95516712insTTATTACTGGATTATTACTGTCGA , CM000667.2:g.95516711_95516712insTTATTACTGGATTATTACTGTCGA GRCh38
NC_000005.9:g.94852415_94852416insTTATTACTGGATTATTACTGTCGA , CM000667.1:g.94852415_94852416insTTATTACTGGATTATTACTGTCGA GRCh37
NC_000005.8:g.94878171_94878172insTTATTACTGGATTATTACTGTCGA NCBI36
NG_023414.1:g.43295_43296insCGACAGTAATAATCCAGTAATAAT , LRG_173:g.43295_43296insCGACAGTAATAATCCAGTAATAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000513232.2:c.*1356_*1357insCGACAGTAATAATCCAGTAATAAT ENSP00000422749.2:n.*1356_*1357insCGACAGTAATAATCCAGTAATAAT
ENST00000698450.1:n.1860_1861insCGACAGTAATAATCCAGTAATAAT
ENST00000698451.1:n.2061_2062insCGACAGTAATAATCCAGTAATAAT
ENST00000698452.1:n.3132_3133insCGACAGTAATAATCCAGTAATAAT
ENST00000698453.1:c.2442-125_2442-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513735.1:n.2442-125_2442-124insCGACAGTAATAATCCAGTAAT...
ENST00000698454.1:c.2467_2468insCGACAGTAATAATCCAGTAATAAT ENSP00000513736.1:p.Leu823SerfsTer7
ENST00000698455.1:c.*2617_*2618insCGACAGTAATAATCCAGTAATAAT ENSP00000513737.1:n.*2617_*2618insCGACAGTAATAATCCAGTAATAAT
ENST00000698456.1:c.*1334_*1335insCGACAGTAATAATCCAGTAATAAT ENSP00000513738.1:n.*1334_*1335insCGACAGTAATAATCCAGTAATAAT
ENST00000698457.1:c.2266_2267insCGACAGTAATAATCCAGTAATAAT ENSP00000513739.1:p.Leu756SerfsTer7
ENST00000698458.1:c.2478-125_2478-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513740.1:n.2478-125_2478-124insCGACAGTAATAATCCAGTAAT...
ENST00000698459.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513741.1:p.Leu826SerfsTer7
ENST00000698460.1:c.*279-125_*279-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513742.1:n.*279-125_*279-124insCGACAGTAATAATCCAGTAAT...
ENST00000698461.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698462.1:n.2851_2852insCGACAGTAATAATCCAGTAATAAT
ENST00000698468.1:n.3132_3133insCGACAGTAATAATCCAGTAATAAT
ENST00000698469.1:c.*1988_*1989insCGACAGTAATAATCCAGTAATAAT ENSP00000513743.1:n.*1988_*1989insCGACAGTAATAATCCAGTAATAAT
ENST00000698470.1:c.*483_*484insCGACAGTAATAATCCAGTAATAAT ENSP00000513744.1:n.*483_*484insCGACAGTAATAATCCAGTAATAAT
ENST00000698471.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698472.1:c.*1356_*1357insCGACAGTAATAATCCAGTAATAAT ENSP00000513745.1:n.*1356_*1357insCGACAGTAATAATCCAGTAATAAT
ENST00000698473.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698474.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698475.1:n.3016_3017insCGACAGTAATAATCCAGTAATAAT
ENST00000698476.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513746.1:p.Leu826SerfsTer7
ENST00000698477.1:c.2442-125_2442-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513747.1:n.2442-125_2442-124insCGACAGTAATAATCCAGTAAT...
ENST00000698478.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698479.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513748.1:p.Leu826SerfsTer7
ENST00000698480.1:c.2437-125_2437-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513749.1:n.2437-125_2437-124insCGACAGTAATAATCCAGTAAT...
ENST00000698481.1:c.2437-125_2437-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513750.1:n.2437-125_2437-124insCGACAGTAATAATCCAGTAAT...
ENST00000698482.1:n.2766_2767insCGACAGTAATAATCCAGTAATAAT
ENST00000698483.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698484.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513751.1:p.Leu826SerfsTer7
ENST00000698485.1:c.2437-125_2437-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513752.1:n.2437-125_2437-124insCGACAGTAATAATCCAGTAAT...
ENST00000698486.1:n.2931_2932insCGACAGTAATAATCCAGTAATAAT
ENST00000698487.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513753.1:p.Leu826SerfsTer7
ENST00000698488.1:c.2260-125_2260-124insCGACAGTAATAATCCAGTAATAAT ENSP00000513754.1:n.2260-125_2260-124insCGACAGTAATAATCCAGTAAT...
ENST00000698489.1:n.6716_6717insCGACAGTAATAATCCAGTAATAAT
ENST00000698490.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000513755.1:p.Leu826SerfsTer7
ENST00000698492.1:c.*1191_*1192insCGACAGTAATAATCCAGTAATAAT ENSP00000513756.1:n.*1191_*1192insCGACAGTAATAATCCAGTAATAAT
ENST00000698493.1:n.2766_2767insCGACAGTAATAATCCAGTAATAAT
ENST00000698494.1:c.*371_*372insCGACAGTAATAATCCAGTAATAAT ENSP00000513757.1:n.*371_*372insCGACAGTAATAATCCAGTAATAAT
ENST00000358746.7:c.2476_2477insCGACAGTAATAATCCAGTAATAAT MANE Select ENSP00000351596.3:p.Leu826SerfsTer7
ENST00000649566.1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000497948.1:p.Leu826SerfsTer7
ENST00000358746.6:c.2476_2477insCGACAGTAATAATCCAGTAATAAT ENSP00000351596.2:p.Leu826SerfsTer7
ENST00000506007.1:n.58_59insCGACAGTAATAATCCAGTAATAAT
ENST00000507805.5:n.663_664insCGACAGTAATAATCCAGTAATAAT
NM_014639.3:c.2476_2477insCGACAGTAATAATCCAGTAATAAT , LRG_173t1:c.2476_2477insCGACAGTAATAATCCAGTAATAAT NP_055454.1:p.Leu826SerfsTer7
XR_948312.1:n.2745_2746insCGACAGTAATAATCCAGTAATAAT
XR_001742370.2:n.2748_2749insCGACAGTAATAATCCAGTAATAAT
NM_014639.4:c.2476_2477insCGACAGTAATAATCCAGTAATAAT MANE Select NP_055454.1:p.Leu826SerfsTer7