Canonical Allele Identifier: CA2678078891

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969575-CAGCGCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969576_31969583del , CM000668.2:g.31969576_31969583del	GRCh38
NC_000006.11:g.31937353_31937360del , CM000668.1:g.31937353_31937360del	GRCh37
NC_000006.10:g.32045332_32045339del	NCBI36
NG_032652.1:g.15773_15780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2650_*2657del	ENSP00000419905.1:n.*2650_*2657del
ENST00000485349.6:n.4078_4085del
ENST00000491994.2:c.*144_*151del	ENSP00000417586.2:n.*144_*151del
ENST00000494058.6:n.3904_3911del
ENST00000697831.1:c.3533_3540del	ENSP00000513453.1:p.Gln1178ArgfsTer2
ENST00000697832.1:n.3755_3762del
ENST00000697833.1:c.*550_*557del	ENSP00000513454.1:n.*550_*557del
ENST00000697834.1:n.4320_4327del
ENST00000697835.1:c.*3120_*3127del	ENSP00000513455.1:n.*3120_*3127del
ENST00000697836.1:n.3956_3963del
ENST00000697837.1:c.*718_*725del	ENSP00000513456.1:n.*718_*725del
ENST00000697838.1:c.3467_3474del	ENSP00000513457.1:p.Gln1156ArgfsTer2
ENST00000697839.1:n.4414_4421del
ENST00000697840.1:c.3638_3645del	ENSP00000513458.1:p.Gln1213ArgfsTer2
ENST00000697841.1:n.4513_4520del
ENST00000697842.1:n.3857_3864del
ENST00000375394.7:c.3602_3609del MANE Select	ENSP00000364543.2:p.Gln1201ArgfsTer2
ENST00000375394.6:c.3602_3609del	ENSP00000364543.2:p.Gln1201ArgfsTer2
ENST00000465703.5:n.4332_4339del
ENST00000470453.1:n.444_451del
ENST00000471818.1:n.531_538del
ENST00000474839.5:c.*2974_*2981del	ENSP00000420470.1:n.*2974_*2981del
ENST00000483553.5:c.1132_1139del
ENST00000491994.1:c.691_698del
NM_006929.4:c.3602_3609del	NP_008860.4:p.Gln1201ArgfsTer2
XR_926301.3:n.3618_3625del
NM_006929.5:c.3602_3609del MANE Select	NP_008860.4:p.Gln1201ArgfsTer2