Canonical Allele Identifier: CA1619384459

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773065896

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969700_31969706dup , CM000668.2:g.31969700_31969706dup	GRCh38
NC_000006.11:g.31937477_31937483dup , CM000668.1:g.31937477_31937483dup	GRCh37
NC_000006.10:g.32045456_32045462dup	NCBI36
NG_032652.1:g.15897_15903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2774_*2780dup	ENSP00000419905.1:n.*2774_*2780dup
ENST00000485349.6:n.4202_4208dup
ENST00000491994.2:c.*268_*274dup	ENSP00000417586.2:n.*268_*274dup
ENST00000494058.6:n.4028_4034dup
ENST00000697831.1:c.3657_3663dup	ENSP00000513453.1:p.Thr1222ProfsTer?
ENST00000697832.1:n.3879_3885dup
ENST00000697834.1:n.4444_4450dup
ENST00000697835.1:c.*3244_*3250dup	ENSP00000513455.1:n.*3244_*3250dup
ENST00000697837.1:c.*842_*848dup	ENSP00000513456.1:n.*842_*848dup
ENST00000697838.1:c.3591_3597dup	ENSP00000513457.1:p.Thr1200ProfsTer?
ENST00000697839.1:n.4538_4544dup
ENST00000697840.1:c.3762_3768dup	ENSP00000513458.1:p.Thr1257ProfsTer?
ENST00000697841.1:n.4637_4643dup
ENST00000697842.1:n.3981_3987dup
ENST00000375394.7:c.3726_3732dup MANE Select	ENSP00000364543.2:p.Thr1245ProfsTer?
ENST00000375394.6:c.3726_3732dup	ENSP00000364543.2:p.Thr1245ProfsTer?
ENST00000465703.5:n.4456_4462dup
ENST00000471818.1:n.655_661dup
ENST00000474839.5:c.*3098_*3104dup	ENSP00000420470.1:n.*3098_*3104dup
ENST00000483553.5:c.1256_1262dup
ENST00000491994.1:c.815_821dup
NM_006929.4:c.3726_3732dup	NP_008860.4:p.Thr1245ProfsTer?
XR_926301.3:n.3742_3748dup
NM_006929.5:c.3726_3732dup MANE Select	NP_008860.4:p.Thr1245ProfsTer?