Canonical Allele Identifier: CA1565024423
Gene: SKIC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516732_95516734delinsTCA , CM000667.2:g.95516732_95516734delinsTCA GRCh38
NC_000005.9:g.94852436_94852438delinsTCA , CM000667.1:g.94852436_94852438delinsTCA GRCh37
NC_000005.8:g.94878192_94878194delinsTCA NCBI36
NG_023414.1:g.43272_43274delinsTGA , LRG_173:g.43272_43274delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2908_2910delinsTGA
ENST00000513232.2:c.*1333_*1335delinsTGA ENSP00000422749.2:n.*1333_*1335delinsTGA
ENST00000698450.1:n.1837_1839delinsTGA
ENST00000698451.1:n.2038_2040delinsTGA
ENST00000698452.1:n.3109_3111delinsTGA
ENST00000698453.1:c.2442-148_2442-146delinsTGA ENSP00000513735.1:n.2442-148_2442-146delinsTGA
ENST00000698454.1:c.2444_2446delinsTGA ENSP00000513736.1:p.Val815=
ENST00000698455.1:c.*2594_*2596delinsTGA ENSP00000513737.1:n.*2594_*2596delinsTGA
ENST00000698456.1:c.*1311_*1313delinsTGA ENSP00000513738.1:n.*1311_*1313delinsTGA
ENST00000698457.1:c.2243_2245delinsTGA ENSP00000513739.1:p.Val748=
ENST00000698458.1:c.2478-148_2478-146delinsTGA ENSP00000513740.1:n.2478-148_2478-146delinsTGA
ENST00000698459.1:c.2453_2455delinsTGA ENSP00000513741.1:p.Val818=
ENST00000698460.1:c.*279-148_*279-146delinsTGA ENSP00000513742.1:n.*279-148_*279-146delinsTGA
ENST00000698461.1:n.2908_2910delinsTGA
ENST00000698462.1:n.2828_2830delinsTGA
ENST00000698468.1:n.3109_3111delinsTGA
ENST00000698469.1:c.*1965_*1967delinsTGA ENSP00000513743.1:n.*1965_*1967delinsTGA
ENST00000698470.1:c.*460_*462delinsTGA ENSP00000513744.1:n.*460_*462delinsTGA
ENST00000698471.1:n.2908_2910delinsTGA
ENST00000698472.1:c.*1333_*1335delinsTGA ENSP00000513745.1:n.*1333_*1335delinsTGA
ENST00000698473.1:n.2908_2910delinsTGA
ENST00000698474.1:n.2908_2910delinsTGA
ENST00000698475.1:n.2993_2995delinsTGA
ENST00000698476.1:c.2453_2455delinsTGA ENSP00000513746.1:p.Val818=
ENST00000698477.1:c.2442-148_2442-146delinsTGA ENSP00000513747.1:n.2442-148_2442-146delinsTGA
ENST00000698478.1:n.2908_2910delinsTGA
ENST00000698479.1:c.2453_2455delinsTGA ENSP00000513748.1:p.Val818=
ENST00000698480.1:c.2437-148_2437-146delinsTGA ENSP00000513749.1:n.2437-148_2437-146delinsTGA
ENST00000698481.1:c.2437-148_2437-146delinsTGA ENSP00000513750.1:n.2437-148_2437-146delinsTGA
ENST00000698482.1:n.2743_2745delinsTGA
ENST00000698483.1:n.2908_2910delinsTGA
ENST00000698484.1:c.2453_2455delinsTGA ENSP00000513751.1:p.Val818=
ENST00000698485.1:c.2437-148_2437-146delinsTGA ENSP00000513752.1:n.2437-148_2437-146delinsTGA
ENST00000698486.1:n.2908_2910delinsTGA
ENST00000698487.1:c.2453_2455delinsTGA ENSP00000513753.1:p.Val818=
ENST00000698488.1:c.2260-148_2260-146delinsTGA ENSP00000513754.1:n.2260-148_2260-146delinsTGA
ENST00000698489.1:n.6693_6695delinsTGA
ENST00000698490.1:c.2453_2455delinsTGA ENSP00000513755.1:p.Val818=
ENST00000698492.1:c.*1168_*1170delinsTGA ENSP00000513756.1:n.*1168_*1170delinsTGA
ENST00000698493.1:n.2743_2745delinsTGA
ENST00000698494.1:c.*348_*350delinsTGA ENSP00000513757.1:n.*348_*350delinsTGA
ENST00000358746.7:c.2453_2455delinsTGA MANE Select ENSP00000351596.3:p.Val818=
ENST00000649566.1:c.2453_2455delinsTGA ENSP00000497948.1:p.Val818=
ENST00000358746.6:c.2453_2455delinsTGA ENSP00000351596.2:p.Val818=
ENST00000506007.1:n.35_37delinsTGA
ENST00000507805.5:n.640_642delinsTGA
NM_014639.3:c.2453_2455delinsTGA , LRG_173t1:c.2453_2455delinsTGA NP_055454.1:p.Val818=
XR_948312.1:n.2722_2724delinsTGA
XR_001742370.2:n.2725_2727delinsTGA
NM_014639.4:c.2453_2455delinsTGA MANE Select NP_055454.1:p.Val818=