Canonical Allele Identifier: CA1619384336
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969402_31969404delinsTGA , CM000668.2:g.31969402_31969404delinsTGA GRCh38
NC_000006.11:g.31937179_31937181delinsTGA , CM000668.1:g.31937179_31937181delinsTGA GRCh37
NC_000006.10:g.32045158_32045160delinsTGA NCBI36
NG_032652.1:g.15599_15601delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2476_*2478delinsTGA ENSP00000419905.1:n.*2476_*2478delinsTGA
ENST00000483553.6:c.*489_*491delinsTGA ENSP00000420332.2:n.*489_*491delinsTGA
ENST00000485349.6:n.3998_4000delinsTGA
ENST00000491994.2:c.3522_3524delinsTGA ENSP00000417586.2:p.Tyr1174=
ENST00000494058.6:n.3824_3826delinsTGA
ENST00000697831.1:c.3453_3455delinsTGA ENSP00000513453.1:p.Tyr1151=
ENST00000697832.1:n.3675_3677delinsTGA
ENST00000697833.1:c.*470_*472delinsTGA ENSP00000513454.1:n.*470_*472delinsTGA
ENST00000697834.1:n.4146_4148delinsTGA
ENST00000697835.1:c.*3040_*3042delinsTGA ENSP00000513455.1:n.*3040_*3042delinsTGA
ENST00000697836.1:n.3853_3855delinsTGA
ENST00000697837.1:c.*638_*640delinsTGA ENSP00000513456.1:n.*638_*640delinsTGA
ENST00000697838.1:c.3387_3389delinsTGA ENSP00000513457.1:p.Tyr1129=
ENST00000697839.1:n.4240_4242delinsTGA
ENST00000697840.1:c.3558_3560delinsTGA ENSP00000513458.1:p.Tyr1186=
ENST00000697841.1:n.4339_4341delinsTGA
ENST00000697842.1:n.3777_3779delinsTGA
ENST00000375394.7:c.3522_3524delinsTGA MANE Select ENSP00000364543.2:p.Tyr1174=
ENST00000375394.6:c.3522_3524delinsTGA ENSP00000364543.2:p.Tyr1174=
ENST00000465703.5:n.4158_4160delinsTGA
ENST00000470453.1:n.382+86_382+88delinsTGA
ENST00000471818.1:n.451_453delinsTGA
ENST00000474839.5:c.*2894_*2896delinsTGA ENSP00000420470.1:n.*2894_*2896delinsTGA
ENST00000483553.5:c.958_960delinsTGA
ENST00000485349.5:n.728_730delinsTGA
ENST00000491994.1:c.517_519delinsTGA
NM_006929.4:c.3522_3524delinsTGA NP_008860.4:p.Tyr1174=
XR_001743586.2:n.3621_3623delinsTGA
XR_926301.3:n.3538_3540delinsTGA
NM_006929.5:c.3522_3524delinsTGA MANE Select NP_008860.4:p.Tyr1174=