Canonical Allele Identifier: CA3729843

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31967793_31967794del , CM000668.2:g.31967793_31967794del	GRCh38
NC_000006.11:g.31935570_31935571del , CM000668.1:g.31935570_31935571del	GRCh37
NC_000006.10:g.32043549_32043550del	NCBI36
NG_032652.1:g.13990_13991del

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.2662_2663del MANE Select	NP_008860.4:p.Arg888GlyfsTer12
ENST00000375394.7:c.2662_2663del MANE Select	ENSP00000364543.2:p.Arg888GlyfsTer12
NM_006929.4:c.2662_2663del	NP_008860.4:p.Arg888GlyfsTer12
ENST00000375394.6:c.2662_2663del	ENSP00000364543.2:p.Arg888GlyfsTer12
ENST00000461073.6:c.*1681_*1682del	ENSP00000419905.1:n.*1681_*1682del
ENST00000461915.5:n.341_342del
ENST00000465703.5:n.3161_3162del
ENST00000474839.5:c.*2034_*2035del	ENSP00000420470.1:n.*2034_*2035del
ENST00000483553.5:c.35_36del
ENST00000483553.6:c.2662_2663del	ENSP00000420332.2:p.Arg888GlyfsTer12
ENST00000484835.1:n.223_224del
ENST00000485349.6:n.2703_2704del
ENST00000491994.2:c.2662_2663del	ENSP00000417586.2:p.Arg888GlyfsTer12
ENST00000494058.5:n.305_306del
ENST00000494058.6:n.2719_2720del
ENST00000697831.1:c.2662_2663del	ENSP00000513453.1:p.Arg888GlyfsTer12
ENST00000697832.1:n.2815_2816del
ENST00000697833.1:c.2662_2663del	ENSP00000513454.1:p.Arg888GlyfsTer12
ENST00000697834.1:n.2714_2715del
ENST00000697835.1:c.*2180_*2181del	ENSP00000513455.1:n.*2180_*2181del
ENST00000697836.1:n.2698_2699del
ENST00000697837.1:c.2662_2663del	ENSP00000513456.1:p.Arg888GlyfsTer12
ENST00000697838.1:c.2527_2528del	ENSP00000513457.1:p.Arg843GlyfsTer12
ENST00000697839.1:n.2945_2946del
ENST00000697840.1:c.2698_2699del	ENSP00000513458.1:p.Arg900GlyfsTer12
ENST00000697841.1:n.3234_3235del
ENST00000697842.1:n.2672_2673del
XM_006715168.2:c.2662_2663del	XP_006715231.1:p.Arg888GlyfsTer12
XM_011514815.1:c.2662_2663del	XP_011513117.1:p.Arg888GlyfsTer12
XM_011514815.3:c.2662_2663del	XP_011513117.1:p.Arg888GlyfsTer12
XR_001743586.2:n.2698_2699del
XR_926301.1:n.2750_2751del
XR_926301.3:n.2698_2699del