Canonical Allele Identifier: CA2697546672

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2699811
• ClinVar RCV Id: RCV003546947

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962494del , CM000668.2:g.31962494del	GRCh38
NC_000006.11:g.31930271del , CM000668.1:g.31930271del	GRCh37
NC_000006.10:g.32038250del	NCBI36
NG_032652.1:g.8691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*236del	ENSP00000419905.1:n.*236del
ENST00000483553.6:c.1120del	ENSP00000420332.2:p.Arg374GlufsTer25
ENST00000485349.6:n.1161del
ENST00000491994.2:c.1120del	ENSP00000417586.2:p.Arg374GlufsTer25
ENST00000494058.6:n.1177del
ENST00000697831.1:c.1120del	ENSP00000513453.1:p.Arg374GlufsTer25
ENST00000697832.1:n.1196del
ENST00000697833.1:c.1120del	ENSP00000513454.1:p.Arg374GlufsTer25
ENST00000697834.1:n.1172del
ENST00000697835.1:c.*638del	ENSP00000513455.1:n.*638del
ENST00000697836.1:n.1156del
ENST00000697837.1:c.1120del	ENSP00000513456.1:p.Arg374GlufsTer25
ENST00000697838.1:c.985del	ENSP00000513457.1:p.Arg329GlufsTer25
ENST00000697839.1:n.1403del
ENST00000697840.1:c.1156del	ENSP00000513458.1:p.Arg386GlufsTer25
ENST00000697841.1:n.1692del
ENST00000697842.1:n.1120del
ENST00000375394.7:c.1120del MANE Select	ENSP00000364543.2:p.Arg374GlufsTer25
ENST00000375394.6:c.1120del	ENSP00000364543.2:p.Arg374GlufsTer25
ENST00000461073.5:c.*236del	ENSP00000419905.1:n.*236del
ENST00000465703.5:n.1433del
ENST00000466290.1:n.381del
ENST00000474839.5:c.*492del	ENSP00000420470.1:n.*492del
NM_006929.4:c.1120del	NP_008860.4:p.Arg374GlufsTer25
XM_006715168.2:c.1120del	XP_006715231.1:p.Arg374GlufsTer25
XM_011514815.1:c.1120del	XP_011513117.1:p.Arg374GlufsTer25
XR_926301.1:n.1208del
XM_011514815.3:c.1120del	XP_011513117.1:p.Arg374GlufsTer25
XR_001743586.2:n.1156del
XR_926301.3:n.1156del
NM_006929.5:c.1120del MANE Select	NP_008860.4:p.Arg374GlufsTer25