Canonical Allele Identifier: CA2564966904

Gene: SKIC3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516857_95516858insGTATTAAAGAAAAATGAGCTCCTCCAC , CM000667.2:g.95516857_95516858insGTATTAAAGAAAAATGAGCTCCTCCAC	GRCh38
NC_000005.9:g.94852561_94852562insGTATTAAAGAAAAATGAGCTCCTCCAC , CM000667.1:g.94852561_94852562insGTATTAAAGAAAAATGAGCTCCTCCAC	GRCh37
NC_000005.8:g.94878317_94878318insGTATTAAAGAAAAATGAGCTCCTCCAC	NCBI36
NG_023414.1:g.43148_43149insGTGGAGGAGCTCATTTTTCTTTAATAC , LRG_173:g.43148_43149insGTGGAGGAGCTCATTTTTCTTTAATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000513232.2:c.*1209_*1210insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000422749.2:n.*1209_*1210insGTGGAGGAGCTCATTTTTCTTTAATAC...
ENST00000698450.1:n.1820+58_1820+59insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698451.1:n.1914_1915insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698452.1:n.2985_2986insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698453.1:c.2441+53_2441+54insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513735.1:n.2441+53_2441+54insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698454.1:c.2427+58_2427+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513736.1:n.2427+58_2427+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698455.1:c.*2470_*2471insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513737.1:n.*2470_*2471insGTGGAGGAGCTCATTTTTCTTTAATAC...
ENST00000698456.1:c.*1294+58_*1294+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513738.1:n.*1294+58_*1294+59insGTGGAGGAGCTCATTTTTCTT...
ENST00000698457.1:c.2226+58_2226+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513739.1:n.2226+58_2226+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698458.1:c.2477+53_2477+54insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513740.1:n.2477+53_2477+54insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698459.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513741.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698460.1:c.*278+58_*278+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513742.1:n.*278+58_*278+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698461.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698462.1:n.2811+58_2811+59insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698468.1:n.2985_2986insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698469.1:c.*1841_*1842insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513743.1:n.*1841_*1842insGTGGAGGAGCTCATTTTTCTTTAATAC...
ENST00000698470.1:c.*336_*337insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513744.1:n.*336_*337insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698471.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698472.1:c.*1209_*1210insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513745.1:n.*1209_*1210insGTGGAGGAGCTCATTTTTCTTTAATAC...
ENST00000698473.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698474.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698475.1:n.2869_2870insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698476.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513746.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698477.1:c.2441+53_2441+54insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513747.1:n.2441+53_2441+54insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698478.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698479.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513748.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698480.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513749.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698481.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513750.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698482.1:n.2726+58_2726+59insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698483.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698484.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513751.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698485.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513752.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698486.1:n.2784_2785insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698487.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513753.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698488.1:c.2259+58_2259+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513754.1:n.2259+58_2259+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698489.1:n.6569_6570insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698490.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513755.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000698492.1:c.*1151+58_*1151+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513756.1:n.*1151+58_*1151+59insGTGGAGGAGCTCATTTTTCTT...
ENST00000698493.1:n.2726+58_2726+59insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000698494.1:c.*224_*225insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000513757.1:n.*224_*225insGTGGAGGAGCTCATTTTTCTTTAATAC
ENST00000358746.7:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC MANE Select	ENSP00000351596.3:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000649566.1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000497948.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000358746.6:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	ENSP00000351596.2:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTA...
ENST00000507805.5:n.516_517insGTGGAGGAGCTCATTTTTCTTTAATAC
NM_014639.3:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC , LRG_173t1:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC	NP_055454.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC
XR_948312.1:n.2705+58_2705+59insGTGGAGGAGCTCATTTTTCTTTAATAC
XR_001742370.2:n.2708+58_2708+59insGTGGAGGAGCTCATTTTTCTTTAATAC
NM_014639.4:c.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC MANE Select	NP_055454.1:n.2436+58_2436+59insGTGGAGGAGCTCATTTTTCTTTAATAC