Canonical Allele Identifier: CA2578573575

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969412dup , CM000668.2:g.31969412dup	GRCh38
NC_000006.11:g.31937189dup , CM000668.1:g.31937189dup	GRCh37
NC_000006.10:g.32045168dup	NCBI36
NG_032652.1:g.15609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2486dup	ENSP00000419905.1:n.*2486dup
ENST00000483553.6:c.*499dup	ENSP00000420332.2:n.*499dup
ENST00000485349.6:n.4008dup
ENST00000491994.2:c.3532dup	ENSP00000417586.2:p.Arg1178ProfsTer?
ENST00000494058.6:n.3834dup
ENST00000697831.1:c.3463dup	ENSP00000513453.1:p.Arg1155ProfsTer16
ENST00000697832.1:n.3685dup
ENST00000697833.1:c.*480dup	ENSP00000513454.1:n.*480dup
ENST00000697834.1:n.4156dup
ENST00000697835.1:c.*3050dup	ENSP00000513455.1:n.*3050dup
ENST00000697836.1:n.3863dup
ENST00000697837.1:c.*648dup	ENSP00000513456.1:n.*648dup
ENST00000697838.1:c.3397dup	ENSP00000513457.1:p.Arg1133ProfsTer16
ENST00000697839.1:n.4250dup
ENST00000697840.1:c.3568dup	ENSP00000513458.1:p.Arg1190ProfsTer16
ENST00000697841.1:n.4349dup
ENST00000697842.1:n.3787dup
ENST00000375394.7:c.3532dup MANE Select	ENSP00000364543.2:p.Arg1178ProfsTer16
ENST00000375394.6:c.3532dup	ENSP00000364543.2:p.Arg1178ProfsTer16
ENST00000465703.5:n.4168dup
ENST00000470453.1:n.382+96dup
ENST00000471818.1:n.461dup
ENST00000474839.5:c.*2904dup	ENSP00000420470.1:n.*2904dup
ENST00000483553.5:c.968dup
ENST00000491994.1:c.527dup
NM_006929.4:c.3532dup	NP_008860.4:p.Arg1178ProfsTer16
XR_001743586.2:n.3631dup
XR_926301.3:n.3548dup
NM_006929.5:c.3532dup MANE Select	NP_008860.4:p.Arg1178ProfsTer16