Canonical Allele Identifier: CA2739272866
Gene: SKIC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2848399
ClinVar RCV Id: RCV003693238

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31960245_31960246insAGATCC , CM000668.2:g.31960245_31960246insAGATCC GRCh38
NC_000006.11:g.31928022_31928023insAGATCC , CM000668.1:g.31928022_31928023insAGATCC GRCh37
NC_000006.10:g.32036001_32036002insAGATCC NCBI36
NG_032652.1:g.6442_6443insAGATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.262_263insAGATCC ENSP00000419905.1:p.Trp88Ter
ENST00000483553.6:c.262_263insAGATCC ENSP00000420332.2:p.Trp88Ter
ENST00000485349.6:n.303_304insAGATCC
ENST00000491994.2:c.262_263insAGATCC ENSP00000417586.2:p.Trp88Ter
ENST00000494058.6:n.319_320insAGATCC
ENST00000697831.1:c.262_263insAGATCC ENSP00000513453.1:p.Trp88Ter
ENST00000697832.1:n.338_339insAGATCC
ENST00000697833.1:c.262_263insAGATCC ENSP00000513454.1:p.Trp88Ter
ENST00000697834.1:n.314_315insAGATCC
ENST00000697835.1:c.281_282insAGATCC ENSP00000513455.1:p.Leu94_Val95insAspPro
ENST00000697836.1:n.298_299insAGATCC
ENST00000697837.1:c.262_263insAGATCC ENSP00000513456.1:p.Trp88Ter
ENST00000697838.1:c.127_128insAGATCC ENSP00000513457.1:p.Trp43Ter
ENST00000697839.1:n.284_285insAGATCC
ENST00000697840.1:c.262_263insAGATCC ENSP00000513458.1:p.Trp88Ter
ENST00000697841.1:n.273_274insAGATCC
ENST00000697842.1:n.262_263insAGATCC
ENST00000375394.7:c.262_263insAGATCC MANE Select ENSP00000364543.2:p.Trp88Ter
ENST00000375394.6:c.262_263insAGATCC ENSP00000364543.2:p.Trp88Ter
ENST00000461073.5:c.262_263insAGATCC ENSP00000419905.1:p.Trp88Ter
ENST00000465703.5:n.314_315insAGATCC
ENST00000474839.5:c.127-796_127-795insAGATCC ENSP00000420470.1:n.127-796_127-795insAGATCC
ENST00000488648.5:n.338_339insAGATCC
ENST00000628157.1:c.127-796_127-795insAGATCC ENSP00000485707.1:n.127-796_127-795insAGATCC
NM_006929.4:c.262_263insAGATCC NP_008860.4:p.Trp88Ter
XM_006715168.2:c.262_263insAGATCC XP_006715231.1:p.Trp88Ter
XM_011514815.1:c.262_263insAGATCC XP_011513117.1:p.Trp88Ter
XR_926301.1:n.350_351insAGATCC
XM_011514815.3:c.262_263insAGATCC XP_011513117.1:p.Trp88Ter
XR_001743586.2:n.298_299insAGATCC
XR_926301.3:n.298_299insAGATCC
NM_006929.5:c.262_263insAGATCC MANE Select NP_008860.4:p.Trp88Ter