Canonical Allele Identifier: CA3347069

Gene: SKIC3

Linked Data

• dbSNP Id: rs762335049
• ExAC: 5:94852381 TAACATGC / T
• gnomAD v4: 5-95516677-TAACATGC-T
• MyVariant Identifiers: chr5:g.94852382_94852388del (hg19) ; chr5:g.95516678_95516684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516681_95516687del , CM000667.2:g.95516681_95516687del	GRCh38
NC_000005.9:g.94852385_94852391del , CM000667.1:g.94852385_94852391del	GRCh37
NC_000005.8:g.94878141_94878147del	NCBI36
NG_023414.1:g.43322_43328del , LRG_173:g.43322_43328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.2958_2964del
ENST00000513232.2:c.*1383_*1389del	ENSP00000422749.2:n.*1383_*1389del
ENST00000698450.1:n.1887_1893del
ENST00000698451.1:n.2088_2094del
ENST00000698452.1:n.3159_3165del
ENST00000698453.1:c.2442-98_2442-92del	ENSP00000513735.1:n.2442-98_2442-92del
ENST00000698454.1:c.2494_2500del	ENSP00000513736.1:p.Ala832ThrfsTer?
ENST00000698455.1:c.*2644_*2650del	ENSP00000513737.1:n.*2644_*2650del
ENST00000698456.1:c.*1361_*1367del	ENSP00000513738.1:n.*1361_*1367del
ENST00000698457.1:c.2293_2299del	ENSP00000513739.1:p.Ala765ThrfsTer?
ENST00000698458.1:c.2478-98_2478-92del	ENSP00000513740.1:n.2478-98_2478-92del
ENST00000698459.1:c.2503_2509del	ENSP00000513741.1:p.Ala835ThrfsTer?
ENST00000698460.1:c.*279-98_*279-92del	ENSP00000513742.1:n.*279-98_*279-92del
ENST00000698461.1:n.2958_2964del
ENST00000698462.1:n.2878_2884del
ENST00000698468.1:n.3159_3165del
ENST00000698469.1:c.*2015_*2021del	ENSP00000513743.1:n.*2015_*2021del
ENST00000698470.1:c.*510_*516del	ENSP00000513744.1:n.*510_*516del
ENST00000698471.1:n.2958_2964del
ENST00000698472.1:c.*1383_*1389del	ENSP00000513745.1:n.*1383_*1389del
ENST00000698473.1:n.2958_2964del
ENST00000698474.1:n.2958_2964del
ENST00000698475.1:n.3043_3049del
ENST00000698476.1:c.2503_2509del	ENSP00000513746.1:p.Ala835ThrfsTer?
ENST00000698477.1:c.2442-98_2442-92del	ENSP00000513747.1:n.2442-98_2442-92del
ENST00000698478.1:n.2958_2964del
ENST00000698479.1:c.2503_2509del	ENSP00000513748.1:p.Ala835ThrfsTer?
ENST00000698480.1:c.2437-98_2437-92del	ENSP00000513749.1:n.2437-98_2437-92del
ENST00000698481.1:c.2437-98_2437-92del	ENSP00000513750.1:n.2437-98_2437-92del
ENST00000698482.1:n.2793_2799del
ENST00000698483.1:n.2958_2964del
ENST00000698484.1:c.2503_2509del	ENSP00000513751.1:p.Ala835ThrfsTer?
ENST00000698485.1:c.2437-98_2437-92del	ENSP00000513752.1:n.2437-98_2437-92del
ENST00000698486.1:n.2958_2964del
ENST00000698487.1:c.2503_2509del	ENSP00000513753.1:p.Ala835ThrfsTer?
ENST00000698488.1:c.2260-98_2260-92del	ENSP00000513754.1:n.2260-98_2260-92del
ENST00000698489.1:n.6743_6749del
ENST00000698490.1:c.2503_2509del	ENSP00000513755.1:p.Ala835ThrfsTer?
ENST00000698492.1:c.*1218_*1224del	ENSP00000513756.1:n.*1218_*1224del
ENST00000698493.1:n.2793_2799del
ENST00000698494.1:c.*398_*404del	ENSP00000513757.1:n.*398_*404del
ENST00000358746.7:c.2503_2509del MANE Select	ENSP00000351596.3:p.Ala835ThrfsTer?
ENST00000649566.1:c.2503_2509del	ENSP00000497948.1:p.Ala835ThrfsTer?
ENST00000358746.6:c.2503_2509del	ENSP00000351596.2:p.Ala835ThrfsTer?
ENST00000506007.1:n.85_91del
ENST00000507805.5:n.690_696del
NM_014639.3:c.2503_2509del , LRG_173t1:c.2503_2509del	NP_055454.1:p.Ala835ThrfsTer?
XR_948312.1:n.2772_2778del
XR_001742370.2:n.2775_2781del
NM_014639.4:c.2503_2509del MANE Select	NP_055454.1:p.Ala835ThrfsTer?