Canonical Allele Identifier: CA2540437824

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962500del , CM000668.2:g.31962500del	GRCh38
NC_000006.11:g.31930277del , CM000668.1:g.31930277del	GRCh37
NC_000006.10:g.32038256del	NCBI36
NG_032652.1:g.8697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*242del	ENSP00000419905.1:n.*242del
ENST00000483553.6:c.1126del	ENSP00000420332.2:p.Thr376HisfsTer23
ENST00000485349.6:n.1167del
ENST00000491994.2:c.1126del	ENSP00000417586.2:p.Thr376HisfsTer23
ENST00000494058.6:n.1183del
ENST00000697831.1:c.1126del	ENSP00000513453.1:p.Thr376HisfsTer23
ENST00000697832.1:n.1202del
ENST00000697833.1:c.1126del	ENSP00000513454.1:p.Thr376HisfsTer23
ENST00000697834.1:n.1178del
ENST00000697835.1:c.*644del	ENSP00000513455.1:n.*644del
ENST00000697836.1:n.1162del
ENST00000697837.1:c.1126del	ENSP00000513456.1:p.Thr376HisfsTer23
ENST00000697838.1:c.991del	ENSP00000513457.1:p.Thr331HisfsTer23
ENST00000697839.1:n.1409del
ENST00000697840.1:c.1162del	ENSP00000513458.1:p.Thr388HisfsTer23
ENST00000697841.1:n.1698del
ENST00000697842.1:n.1126del
ENST00000375394.7:c.1126del MANE Select	ENSP00000364543.2:p.Thr376HisfsTer23
ENST00000375394.6:c.1126del	ENSP00000364543.2:p.Thr376HisfsTer23
ENST00000461073.5:c.*242del	ENSP00000419905.1:n.*242del
ENST00000465703.5:n.1439del
ENST00000466290.1:n.387del
ENST00000474839.5:c.*498del	ENSP00000420470.1:n.*498del
NM_006929.4:c.1126del	NP_008860.4:p.Thr376HisfsTer23
XM_006715168.2:c.1126del	XP_006715231.1:p.Thr376HisfsTer23
XM_011514815.1:c.1126del	XP_011513117.1:p.Thr376HisfsTer23
XR_926301.1:n.1214del
XM_011514815.3:c.1126del	XP_011513117.1:p.Thr376HisfsTer23
XR_001743586.2:n.1162del
XR_926301.3:n.1162del
NM_006929.5:c.1126del MANE Select	NP_008860.4:p.Thr376HisfsTer23