Canonical Allele Identifier: CA1619384426
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1773056090

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969625_31969628del , CM000668.2:g.31969625_31969628del GRCh38
NC_000006.11:g.31937402_31937405del , CM000668.1:g.31937402_31937405del GRCh37
NC_000006.10:g.32045381_32045384del NCBI36
NG_032652.1:g.15822_15825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2699_*2702del ENSP00000419905.1:n.*2699_*2702del
ENST00000485349.6:n.4127_4130del
ENST00000491994.2:c.*193_*196del ENSP00000417586.2:n.*193_*196del
ENST00000494058.6:n.3953_3956del
ENST00000697831.1:c.3582_3585del ENSP00000513453.1:p.Gly1195SerfsTer?
ENST00000697832.1:n.3804_3807del
ENST00000697834.1:n.4369_4372del
ENST00000697835.1:c.*3169_*3172del ENSP00000513455.1:n.*3169_*3172del
ENST00000697836.1:n.4005_4008del
ENST00000697837.1:c.*767_*770del ENSP00000513456.1:n.*767_*770del
ENST00000697838.1:c.3516_3519del ENSP00000513457.1:p.Gly1173SerfsTer?
ENST00000697839.1:n.4463_4466del
ENST00000697840.1:c.3687_3690del ENSP00000513458.1:p.Gly1230SerfsTer?
ENST00000697841.1:n.4562_4565del
ENST00000697842.1:n.3906_3909del
ENST00000375394.7:c.3651_3654del MANE Select ENSP00000364543.2:p.Gly1218SerfsTer?
ENST00000375394.6:c.3651_3654del ENSP00000364543.2:p.Gly1218SerfsTer?
ENST00000465703.5:n.4381_4384del
ENST00000471818.1:n.580_583del
ENST00000474839.5:c.*3023_*3026del ENSP00000420470.1:n.*3023_*3026del
ENST00000483553.5:c.1181_1184del
ENST00000491994.1:c.740_743del
NM_006929.4:c.3651_3654del NP_008860.4:p.Gly1218SerfsTer?
XR_926301.3:n.3667_3670del
NM_006929.5:c.3651_3654del MANE Select NP_008860.4:p.Gly1218SerfsTer?