Canonical Allele Identifier: CA561278107

Gene: SKIC3

Linked Data

• dbSNP Id: rs1561342184
• gnomAD v2: 5-94852576-T-C
• gnomAD v4: 5-95516872-T-C
• MyVariant Identifiers: chr5:g.94852576_94852578delinsCTA (hg19) ; chr5:g.95516872_95516874delinsCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516872T>C , CM000667.2:g.95516872T>C	GRCh38
NC_000005.9:g.94852576T>C , CM000667.1:g.94852576T>C	GRCh37
NC_000005.8:g.94878332T>C	NCBI36
NG_023414.1:g.43134A>G , LRG_173:g.43134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2770A>G
ENST00000513232.2:c.*1195A>G	ENSP00000422749.2:n.*1195A>G
ENST00000698450.1:n.1820+44A>G
ENST00000698451.1:n.1900A>G
ENST00000698452.1:n.2971A>G
ENST00000698453.1:c.2441+39A>G	ENSP00000513735.1:n.2441+39A>G
ENST00000698454.1:c.2427+44A>G	ENSP00000513736.1:n.2427+44A>G
ENST00000698455.1:c.*2456A>G	ENSP00000513737.1:n.*2456A>G
ENST00000698456.1:c.*1294+44A>G	ENSP00000513738.1:n.*1294+44A>G
ENST00000698457.1:c.2226+44A>G	ENSP00000513739.1:n.2226+44A>G
ENST00000698458.1:c.2477+39A>G	ENSP00000513740.1:n.2477+39A>G
ENST00000698459.1:c.2436+44A>G	ENSP00000513741.1:n.2436+44A>G
ENST00000698460.1:c.*278+44A>G	ENSP00000513742.1:n.*278+44A>G
ENST00000698461.1:n.2770A>G
ENST00000698462.1:n.2811+44A>G
ENST00000698468.1:n.2971A>G
ENST00000698469.1:c.*1827A>G	ENSP00000513743.1:n.*1827A>G
ENST00000698470.1:c.*322A>G	ENSP00000513744.1:n.*322A>G
ENST00000698471.1:n.2770A>G
ENST00000698472.1:c.*1195A>G	ENSP00000513745.1:n.*1195A>G
ENST00000698473.1:n.2770A>G
ENST00000698474.1:n.2770A>G
ENST00000698475.1:n.2855A>G
ENST00000698476.1:c.2436+44A>G	ENSP00000513746.1:n.2436+44A>G
ENST00000698477.1:c.2441+39A>G	ENSP00000513747.1:n.2441+39A>G
ENST00000698478.1:n.2770A>G
ENST00000698479.1:c.2436+44A>G	ENSP00000513748.1:n.2436+44A>G
ENST00000698480.1:c.2436+44A>G	ENSP00000513749.1:n.2436+44A>G
ENST00000698481.1:c.2436+44A>G	ENSP00000513750.1:n.2436+44A>G
ENST00000698482.1:n.2726+44A>G
ENST00000698483.1:n.2770A>G
ENST00000698484.1:c.2436+44A>G	ENSP00000513751.1:n.2436+44A>G
ENST00000698485.1:c.2436+44A>G	ENSP00000513752.1:n.2436+44A>G
ENST00000698486.1:n.2770A>G
ENST00000698487.1:c.2436+44A>G	ENSP00000513753.1:n.2436+44A>G
ENST00000698488.1:c.2259+44A>G	ENSP00000513754.1:n.2259+44A>G
ENST00000698489.1:n.6555A>G
ENST00000698490.1:c.2436+44A>G	ENSP00000513755.1:n.2436+44A>G
ENST00000698492.1:c.*1151+44A>G	ENSP00000513756.1:n.*1151+44A>G
ENST00000698493.1:n.2726+44A>G
ENST00000698494.1:c.*210A>G	ENSP00000513757.1:n.*210A>G
ENST00000358746.7:c.2436+44A>G MANE Select	ENSP00000351596.3:n.2436+44A>G
ENST00000649566.1:c.2436+44A>G	ENSP00000497948.1:n.2436+44A>G
ENST00000358746.6:c.2436+44A>G	ENSP00000351596.2:n.2436+44A>G
ENST00000507805.5:n.502A>G
NM_014639.3:c.2436+44A>G , LRG_173t1:c.2436+44A>G	NP_055454.1:n.2436+44A>G
XR_948312.1:n.2705+44A>G
XR_001742370.2:n.2708+44A>G
NM_014639.4:c.2436+44A>G MANE Select	NP_055454.1:n.2436+44A>G