Canonical Allele Identifier: CA566693095

Gene: SKIC2

Linked Data

• dbSNP Id: rs1335942952
• gnomAD v2: 6-31937381-G-GC
• gnomAD v4: 6-31969604-G-GC
• MyVariant Identifiers: chr6:g.31937381_31937382insC (hg19) ; chr6:g.31969604_31969605insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969605dup , CM000668.2:g.31969605dup	GRCh38
NC_000006.11:g.31937382dup , CM000668.1:g.31937382dup	GRCh37
NC_000006.10:g.32045361dup	NCBI36
NG_032652.1:g.15802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2679dup	ENSP00000419905.1:n.*2679dup
ENST00000485349.6:n.4107dup
ENST00000491994.2:c.*173dup	ENSP00000417586.2:n.*173dup
ENST00000494058.6:n.3933dup
ENST00000697831.1:c.3562dup	ENSP00000513453.1:p.Arg1188ProfsTer?
ENST00000697832.1:n.3784dup
ENST00000697834.1:n.4349dup
ENST00000697835.1:c.*3149dup	ENSP00000513455.1:n.*3149dup
ENST00000697836.1:n.3985dup
ENST00000697837.1:c.*747dup	ENSP00000513456.1:n.*747dup
ENST00000697838.1:c.3496dup	ENSP00000513457.1:p.Arg1166ProfsTer?
ENST00000697839.1:n.4443dup
ENST00000697840.1:c.3667dup	ENSP00000513458.1:p.Arg1223ProfsTer?
ENST00000697841.1:n.4542dup
ENST00000697842.1:n.3886dup
ENST00000375394.7:c.3631dup MANE Select	ENSP00000364543.2:p.Arg1211ProfsTer?
ENST00000375394.6:c.3631dup	ENSP00000364543.2:p.Arg1211ProfsTer?
ENST00000465703.5:n.4361dup
ENST00000471818.1:n.560dup
ENST00000474839.5:c.*3003dup	ENSP00000420470.1:n.*3003dup
ENST00000483553.5:c.1161dup
ENST00000491994.1:c.720dup
NM_006929.4:c.3631dup	NP_008860.4:p.Arg1211ProfsTer?
XR_926301.3:n.3647dup
NM_006929.5:c.3631dup MANE Select	NP_008860.4:p.Arg1211ProfsTer?