Canonical Allele Identifier: CA1565024399

Gene: SKIC3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516677_95516684delinsTAACATGC , CM000667.2:g.95516677_95516684delinsTAACATGC	GRCh38
NC_000005.9:g.94852381_94852388delinsTAACATGC , CM000667.1:g.94852381_94852388delinsTAACATGC	GRCh37
NC_000005.8:g.94878137_94878144delinsTAACATGC	NCBI36
NG_023414.1:g.43322_43329delinsGCATGTTA , LRG_173:g.43322_43329delinsGCATGTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.2958_2965delinsGCATGTTA
ENST00000513232.2:c.*1383_*1390delinsGCATGTTA	ENSP00000422749.2:n.*1383_*1390delinsGCAT...
ENST00000698450.1:n.1887_1894delinsGCATGTTA
ENST00000698451.1:n.2088_2095delinsGCATGTTA
ENST00000698452.1:n.3159_3166delinsGCATGTTA
ENST00000698453.1:c.2442-98_2442-91delinsGCATGTTA	ENSP00000513735.1:n.2442-98_2442-91delins...
ENST00000698454.1:c.2494_2501delinsGCATGTTA	ENSP00000513736.1:p.Ala832=
ENST00000698455.1:c.*2644_*2651delinsGCATGTTA	ENSP00000513737.1:n.*2644_*2651delinsGCAT...
ENST00000698456.1:c.*1361_*1368delinsGCATGTTA	ENSP00000513738.1:n.*1361_*1368delinsGCAT...
ENST00000698457.1:c.2293_2300delinsGCATGTTA	ENSP00000513739.1:p.Ala765=
ENST00000698458.1:c.2478-98_2478-91delinsGCATGTTA	ENSP00000513740.1:n.2478-98_2478-91delins...
ENST00000698459.1:c.2503_2510delinsGCATGTTA	ENSP00000513741.1:p.Ala835=
ENST00000698460.1:c.*279-98_*279-91delinsGCATGTTA	ENSP00000513742.1:n.*279-98_*279-91delins...
ENST00000698461.1:n.2958_2965delinsGCATGTTA
ENST00000698462.1:n.2878_2885delinsGCATGTTA
ENST00000698468.1:n.3159_3166delinsGCATGTTA
ENST00000698469.1:c.*2015_*2022delinsGCATGTTA	ENSP00000513743.1:n.*2015_*2022delinsGCAT...
ENST00000698470.1:c.*510_*517delinsGCATGTTA	ENSP00000513744.1:n.*510_*517delinsGCATGT...
ENST00000698471.1:n.2958_2965delinsGCATGTTA
ENST00000698472.1:c.*1383_*1390delinsGCATGTTA	ENSP00000513745.1:n.*1383_*1390delinsGCAT...
ENST00000698473.1:n.2958_2965delinsGCATGTTA
ENST00000698474.1:n.2958_2965delinsGCATGTTA
ENST00000698475.1:n.3043_3050delinsGCATGTTA
ENST00000698476.1:c.2503_2510delinsGCATGTTA	ENSP00000513746.1:p.Ala835=
ENST00000698477.1:c.2442-98_2442-91delinsGCATGTTA	ENSP00000513747.1:n.2442-98_2442-91delins...
ENST00000698478.1:n.2958_2965delinsGCATGTTA
ENST00000698479.1:c.2503_2510delinsGCATGTTA	ENSP00000513748.1:p.Ala835=
ENST00000698480.1:c.2437-98_2437-91delinsGCATGTTA	ENSP00000513749.1:n.2437-98_2437-91delins...
ENST00000698481.1:c.2437-98_2437-91delinsGCATGTTA	ENSP00000513750.1:n.2437-98_2437-91delins...
ENST00000698482.1:n.2793_2800delinsGCATGTTA
ENST00000698483.1:n.2958_2965delinsGCATGTTA
ENST00000698484.1:c.2503_2510delinsGCATGTTA	ENSP00000513751.1:p.Ala835=
ENST00000698485.1:c.2437-98_2437-91delinsGCATGTTA	ENSP00000513752.1:n.2437-98_2437-91delins...
ENST00000698486.1:n.2958_2965delinsGCATGTTA
ENST00000698487.1:c.2503_2510delinsGCATGTTA	ENSP00000513753.1:p.Ala835=
ENST00000698488.1:c.2260-98_2260-91delinsGCATGTTA	ENSP00000513754.1:n.2260-98_2260-91delins...
ENST00000698489.1:n.6743_6750delinsGCATGTTA
ENST00000698490.1:c.2503_2510delinsGCATGTTA	ENSP00000513755.1:p.Ala835=
ENST00000698492.1:c.*1218_*1225delinsGCATGTTA	ENSP00000513756.1:n.*1218_*1225delinsGCAT...
ENST00000698493.1:n.2793_2800delinsGCATGTTA
ENST00000698494.1:c.*398_*405delinsGCATGTTA	ENSP00000513757.1:n.*398_*405delinsGCATGT...
ENST00000358746.7:c.2503_2510delinsGCATGTTA MANE Select	ENSP00000351596.3:p.Ala835=
ENST00000649566.1:c.2503_2510delinsGCATGTTA	ENSP00000497948.1:p.Ala835=
ENST00000358746.6:c.2503_2510delinsGCATGTTA	ENSP00000351596.2:p.Ala835=
ENST00000506007.1:n.85_92delinsGCATGTTA
ENST00000507805.5:n.690_697delinsGCATGTTA
NM_014639.3:c.2503_2510delinsGCATGTTA , LRG_173t1:c.2503_2510delinsGCATGTTA	NP_055454.1:p.Ala835=
XR_948312.1:n.2772_2779delinsGCATGTTA
XR_001742370.2:n.2775_2782delinsGCATGTTA
NM_014639.4:c.2503_2510delinsGCATGTTA MANE Select	NP_055454.1:p.Ala835=