Canonical Allele Identifier: CA1619384337

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773031817

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969404_31969405del , CM000668.2:g.31969404_31969405del	GRCh38
NC_000006.11:g.31937181_31937182del , CM000668.1:g.31937181_31937182del	GRCh37
NC_000006.10:g.32045160_32045161del	NCBI36
NG_032652.1:g.15601_15602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2478_*2479del	ENSP00000419905.1:n.*2478_*2479del
ENST00000483553.6:c.*491_*492del	ENSP00000420332.2:n.*491_*492del
ENST00000485349.6:n.4000_4001del
ENST00000491994.2:c.3524_3525del	ENSP00000417586.2:p.Glu1175ValfsTer?
ENST00000494058.6:n.3826_3827del
ENST00000697831.1:c.3455_3456del	ENSP00000513453.1:p.Glu1152ValfsTer18
ENST00000697832.1:n.3677_3678del
ENST00000697833.1:c.*472_*473del	ENSP00000513454.1:n.*472_*473del
ENST00000697834.1:n.4148_4149del
ENST00000697835.1:c.*3042_*3043del	ENSP00000513455.1:n.*3042_*3043del
ENST00000697836.1:n.3855_3856del
ENST00000697837.1:c.*640_*641del	ENSP00000513456.1:n.*640_*641del
ENST00000697838.1:c.3389_3390del	ENSP00000513457.1:p.Glu1130ValfsTer18
ENST00000697839.1:n.4242_4243del
ENST00000697840.1:c.3560_3561del	ENSP00000513458.1:p.Glu1187ValfsTer18
ENST00000697841.1:n.4341_4342del
ENST00000697842.1:n.3779_3780del
ENST00000375394.7:c.3524_3525del MANE Select	ENSP00000364543.2:p.Glu1175ValfsTer18
ENST00000375394.6:c.3524_3525del	ENSP00000364543.2:p.Glu1175ValfsTer18
ENST00000465703.5:n.4160_4161del
ENST00000470453.1:n.382+88_382+89del
ENST00000471818.1:n.453_454del
ENST00000474839.5:c.*2896_*2897del	ENSP00000420470.1:n.*2896_*2897del
ENST00000483553.5:c.960_961del
ENST00000485349.5:n.730_731del
ENST00000491994.1:c.519_520del
NM_006929.4:c.3524_3525del	NP_008860.4:p.Glu1175ValfsTer18
XR_001743586.2:n.3623_3624del
XR_926301.3:n.3540_3541del
NM_006929.5:c.3524_3525del MANE Select	NP_008860.4:p.Glu1175ValfsTer18