Canonical Allele Identifier: CA2678078821

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969419-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969421dup , CM000668.2:g.31969421dup	GRCh38
NC_000006.11:g.31937198dup , CM000668.1:g.31937198dup	GRCh37
NC_000006.10:g.32045177dup	NCBI36
NG_032652.1:g.15618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2495dup	ENSP00000419905.1:n.*2495dup
ENST00000483553.6:c.*508dup	ENSP00000420332.2:n.*508dup
ENST00000485349.6:n.4016+1dup
ENST00000491994.2:c.3541dup	ENSP00000417586.2:p.Val1181GlyfsTer?
ENST00000494058.6:n.3842+1dup
ENST00000697831.1:c.3471+1dup
ENST00000697832.1:n.3693+1dup
ENST00000697833.1:c.*488+1dup
ENST00000697834.1:n.4165dup
ENST00000697835.1:c.*3058+1dup
ENST00000697836.1:n.3871+1dup
ENST00000697837.1:c.*656+1dup
ENST00000697838.1:c.3405+1dup
ENST00000697839.1:n.4259dup
ENST00000697840.1:c.3576+1dup
ENST00000697841.1:n.4358dup
ENST00000697842.1:n.3795+1dup
ENST00000375394.7:c.3540+1dup
ENST00000375394.6:c.3540+1dup
ENST00000465703.5:n.4177dup
ENST00000470453.1:n.383-94dup
ENST00000471818.1:n.469+1dup
ENST00000474839.5:c.*2912+1dup
ENST00000483553.5:c.977dup
ENST00000491994.1:c.536dup
NM_006929.4:c.3540+1dup
XR_001743586.2:n.3640dup
XR_926301.3:n.3556+1dup
NM_006929.5:c.3540+1dup