Canonical Allele Identifier: CA2513784329
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31962420_31962421del , CM000668.2:g.31962420_31962421del GRCh38
NC_000006.11:g.31930197_31930198del , CM000668.1:g.31930197_31930198del GRCh37
NC_000006.10:g.32038176_32038177del NCBI36
NG_032652.1:g.8617_8618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*181-19_*181-18del ENSP00000419905.1:n.*181-19_*181-18del
ENST00000483553.6:c.1065-19_1065-18del ENSP00000420332.2:n.1065-19_1065-18del
ENST00000485349.6:n.1106-19_1106-18del
ENST00000491994.2:c.1065-19_1065-18del ENSP00000417586.2:n.1065-19_1065-18del
ENST00000494058.6:n.1122-19_1122-18del
ENST00000697831.1:c.1065-19_1065-18del ENSP00000513453.1:n.1065-19_1065-18del
ENST00000697832.1:n.1141-19_1141-18del
ENST00000697833.1:c.1065-19_1065-18del ENSP00000513454.1:n.1065-19_1065-18del
ENST00000697834.1:n.1117-19_1117-18del
ENST00000697835.1:c.*583-19_*583-18del ENSP00000513455.1:n.*583-19_*583-18del
ENST00000697836.1:n.1101-19_1101-18del
ENST00000697837.1:c.1065-19_1065-18del ENSP00000513456.1:n.1065-19_1065-18del
ENST00000697838.1:c.930-19_930-18del ENSP00000513457.1:n.930-19_930-18del
ENST00000697839.1:n.1348-19_1348-18del
ENST00000697840.1:c.1101-19_1101-18del ENSP00000513458.1:n.1101-19_1101-18del
ENST00000697841.1:n.1637-19_1637-18del
ENST00000697842.1:n.1065-19_1065-18del
ENST00000375394.7:c.1065-19_1065-18del MANE Select ENSP00000364543.2:n.1065-19_1065-18del
ENST00000375394.6:c.1065-19_1065-18del ENSP00000364543.2:n.1065-19_1065-18del
ENST00000461073.5:c.*181-19_*181-18del ENSP00000419905.1:n.*181-19_*181-18del
ENST00000465703.5:n.1378-19_1378-18del
ENST00000466290.1:n.326-19_326-18del
ENST00000474839.5:c.*437-19_*437-18del ENSP00000420470.1:n.*437-19_*437-18del
NM_006929.4:c.1065-19_1065-18del NP_008860.4:n.1065-19_1065-18del
XM_006715168.2:c.1065-19_1065-18del XP_006715231.1:n.1065-19_1065-18del
XM_011514815.1:c.1065-19_1065-18del XP_011513117.1:n.1065-19_1065-18del
XR_926301.1:n.1153-19_1153-18del
XM_011514815.3:c.1065-19_1065-18del XP_011513117.1:n.1065-19_1065-18del
XR_001743586.2:n.1101-19_1101-18del
XR_926301.3:n.1101-19_1101-18del
NM_006929.5:c.1065-19_1065-18del MANE Select NP_008860.4:n.1065-19_1065-18del