Canonical Allele Identifier: CA917713122

Gene: SKIC2

Linked Data

• dbSNP Id: rs1562671663
• gnomAD v4: 6-31969407-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969408_31969409insTG , CM000668.2:g.31969408_31969409insTG	GRCh38
NC_000006.11:g.31937185_31937186insTG , CM000668.1:g.31937185_31937186insTG	GRCh37
NC_000006.10:g.32045164_32045165insTG	NCBI36
NG_032652.1:g.15605_15606insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2482_*2483insTG	ENSP00000419905.1:n.*2482_*2483insTG
ENST00000483553.6:c.*495_*496insTG	ENSP00000420332.2:n.*495_*496insTG
ENST00000485349.6:n.4004_4005insTG
ENST00000491994.2:c.3528_3529insTG	ENSP00000417586.2:p.Ala1177TrpfsTer6
ENST00000494058.6:n.3830_3831insTG
ENST00000697831.1:c.3459_3460insTG	ENSP00000513453.1:p.Ala1154TrpfsTer?
ENST00000697832.1:n.3681_3682insTG
ENST00000697833.1:c.*476_*477insTG	ENSP00000513454.1:n.*476_*477insTG
ENST00000697834.1:n.4152_4153insTG
ENST00000697835.1:c.*3046_*3047insTG	ENSP00000513455.1:n.*3046_*3047insTG
ENST00000697836.1:n.3859_3860insTG
ENST00000697837.1:c.*644_*645insTG	ENSP00000513456.1:n.*644_*645insTG
ENST00000697838.1:c.3393_3394insTG	ENSP00000513457.1:p.Ala1132TrpfsTer?
ENST00000697839.1:n.4246_4247insTG
ENST00000697840.1:c.3564_3565insTG	ENSP00000513458.1:p.Ala1189TrpfsTer?
ENST00000697841.1:n.4345_4346insTG
ENST00000697842.1:n.3783_3784insTG
ENST00000375394.7:c.3528_3529insTG MANE Select	ENSP00000364543.2:p.Ala1177TrpfsTer?
ENST00000375394.6:c.3528_3529insTG	ENSP00000364543.2:p.Ala1177TrpfsTer?
ENST00000465703.5:n.4164_4165insTG
ENST00000470453.1:n.382+92_382+93insTG
ENST00000471818.1:n.457_458insTG
ENST00000474839.5:c.*2900_*2901insTG	ENSP00000420470.1:n.*2900_*2901insTG
ENST00000483553.5:c.964_965insTG
ENST00000491994.1:c.523_524insTG
NM_006929.4:c.3528_3529insTG	NP_008860.4:p.Ala1177TrpfsTer?
XR_001743586.2:n.3627_3628insTG
XR_926301.3:n.3544_3545insTG
NM_006929.5:c.3528_3529insTG MANE Select	NP_008860.4:p.Ala1177TrpfsTer?