Canonical Allele Identifier: CA245639

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 197471
• ClinVar RCV Id: RCV000178506
• dbSNP Id: rs755628334
• ExAC: 5:94803697 G / GA
• gnomAD v2: 5-94803697-G-GA
• gnomAD v3: 5-95467993-G-GA
• gnomAD v4: 5-95467993-G-GA
• MyVariant Identifiers: chr5:g.94803698dupA (hg19) ; chr5:g.94803699_94803700insA (hg19) ; chr5:g.94803698_94803699insA (hg19) ; chr5:g.94803697_94803698insA (hg19) ; chr5:g.95467994dupA (hg38) ; chr5:g.95467995_95467996insA (hg38) ; chr5:g.95467993_95467994insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95468003dup , CM000667.2:g.95468003dup	GRCh38
NC_000005.9:g.94803707dup , CM000667.1:g.94803707dup	GRCh37
NC_000005.8:g.94829463dup	NCBI36
NG_023414.1:g.92012dup , LRG_173:g.92012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.5989-5dup
ENST00000513232.2:c.*3320-5dup	ENSP00000422749.2:n.*3320-5dup
ENST00000698450.1:n.3881-5dup
ENST00000698451.1:n.4167-5dup
ENST00000698452.1:n.5339-5dup
ENST00000698453.1:c.*1918-5dup	ENSP00000513735.1:n.*1918-5dup
ENST00000698454.1:c.4488-5dup	ENSP00000513736.1:n.4488-5dup
ENST00000698455.1:c.*4723-5dup	ENSP00000513737.1:n.*4723-5dup
ENST00000698456.1:c.*3355-5dup	ENSP00000513738.1:n.*3355-5dup
ENST00000698457.1:c.4287-5dup	ENSP00000513739.1:n.4287-5dup
ENST00000698458.1:c.*1918-5dup	ENSP00000513740.1:n.*1918-5dup
ENST00000698459.1:c.*1859-5dup	ENSP00000513741.1:n.*1859-5dup
ENST00000698460.1:c.*2260-5dup	ENSP00000513742.1:n.*2260-5dup
ENST00000698461.1:n.4952-5dup
ENST00000698462.1:n.4872-5dup
ENST00000698463.1:n.2279-5dup
ENST00000698464.1:n.1745-5dup
ENST00000698465.1:n.1522-5dup
ENST00000698466.1:n.6112-5dup
ENST00000698467.1:n.2097-5dup
ENST00000698468.1:n.5362-5dup
ENST00000698469.1:c.*3952-5dup	ENSP00000513743.1:n.*3952-5dup
ENST00000698470.1:c.*2447-5dup	ENSP00000513744.1:n.*2447-5dup
ENST00000698471.1:n.7416-5dup
ENST00000698472.1:c.*3501-5dup	ENSP00000513745.1:n.*3501-5dup
ENST00000698473.1:n.5996-5dup
ENST00000698474.1:n.5098-5dup
ENST00000698475.1:n.7704-5dup
ENST00000698476.1:c.*848-5dup	ENSP00000513746.1:n.*848-5dup
ENST00000698477.1:c.*1651-5dup	ENSP00000513747.1:n.*1651-5dup
ENST00000698478.1:n.4751-5dup
ENST00000698479.1:c.4539-5dup	ENSP00000513748.1:n.4539-5dup
ENST00000698480.1:c.*1807-5dup	ENSP00000513749.1:n.*1807-5dup
ENST00000698481.1:c.*1650-5dup	ENSP00000513750.1:n.*1650-5dup
ENST00000698482.1:n.8137-5dup
ENST00000698483.1:n.8302-5dup
ENST00000698484.1:c.*1427-5dup	ENSP00000513751.1:n.*1427-5dup
ENST00000698485.1:c.*1792-5dup	ENSP00000513752.1:n.*1792-5dup
ENST00000698486.1:n.5034-5dup
ENST00000698487.1:c.4491-5dup	ENSP00000513753.1:n.4491-5dup
ENST00000698488.1:c.*1669-5dup	ENSP00000513754.1:n.*1669-5dup
ENST00000698489.1:n.8818-5dup
ENST00000698490.1:c.4488-5dup	ENSP00000513755.1:n.4488-5dup
ENST00000698491.1:n.232dup
ENST00000698492.1:c.*3090-5dup	ENSP00000513756.1:n.*3090-5dup
ENST00000698493.1:n.4787-5dup
ENST00000358746.7:c.4497-5dup MANE Select	ENSP00000351596.3:n.4497-5dup
ENST00000649566.1:c.4497-5dup	ENSP00000497948.1:n.4497-5dup
ENST00000358746.6:c.4497-5dup	ENSP00000351596.2:n.4497-5dup
NM_014639.3:c.4497-5dup , LRG_173t1:c.4497-5dup	NP_055454.1:n.4497-5dup
NM_014639.4:c.4497-5dup MANE Select	NP_055454.1:n.4497-5dup