Canonical Allele Identifier: CA645559537
Gene: SKIC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969690_31969691insC , CM000668.2:g.31969690_31969691insC GRCh38
NC_000006.11:g.31937467_31937468insC , CM000668.1:g.31937467_31937468insC GRCh37
NC_000006.10:g.32045446_32045447insC NCBI36
NG_032652.1:g.15887_15888insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2764_*2765insC ENSP00000419905.1:n.*2764_*2765insC
ENST00000485349.6:n.4192_4193insC
ENST00000491994.2:c.*258_*259insC ENSP00000417586.2:n.*258_*259insC
ENST00000494058.6:n.4018_4019insC
ENST00000697831.1:c.3647_3648insC ENSP00000513453.1:p.Ala1217CysfsTer?
ENST00000697832.1:n.3869_3870insC
ENST00000697834.1:n.4434_4435insC
ENST00000697835.1:c.*3234_*3235insC ENSP00000513455.1:n.*3234_*3235insC
ENST00000697836.1:n.4070_4071insC
ENST00000697837.1:c.*832_*833insC ENSP00000513456.1:n.*832_*833insC
ENST00000697838.1:c.3581_3582insC ENSP00000513457.1:p.Ala1195CysfsTer?
ENST00000697839.1:n.4528_4529insC
ENST00000697840.1:c.3752_3753insC ENSP00000513458.1:p.Ala1252CysfsTer?
ENST00000697841.1:n.4627_4628insC
ENST00000697842.1:n.3971_3972insC
ENST00000375394.7:c.3716_3717insC MANE Select ENSP00000364543.2:p.Ala1240CysfsTer?
ENST00000375394.6:c.3716_3717insC ENSP00000364543.2:p.Ala1240CysfsTer?
ENST00000465703.5:n.4446_4447insC
ENST00000471818.1:n.645_646insC
ENST00000474839.5:c.*3088_*3089insC ENSP00000420470.1:n.*3088_*3089insC
ENST00000483553.5:c.1246_1247insC
ENST00000491994.1:c.805_806insC
NM_006929.4:c.3716_3717insC NP_008860.4:p.Ala1240CysfsTer?
XR_926301.3:n.3732_3733insC
NM_006929.5:c.3716_3717insC MANE Select NP_008860.4:p.Ala1240CysfsTer?