Canonical Allele Identifier: CA2770525455
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31960215_31960216del , CM000668.2:g.31960215_31960216del GRCh38
NC_000006.11:g.31927992_31927993del , CM000668.1:g.31927992_31927993del GRCh37
NC_000006.10:g.32035971_32035972del NCBI36
NG_032652.1:g.6412_6413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.237-5_237-4del ENSP00000419905.1:n.237-5_237-4del
ENST00000483553.6:c.237-5_237-4del ENSP00000420332.2:n.237-5_237-4del
ENST00000485349.6:n.278-5_278-4del
ENST00000491994.2:c.237-5_237-4del ENSP00000417586.2:n.237-5_237-4del
ENST00000494058.6:n.294-5_294-4del
ENST00000697831.1:c.237-5_237-4del ENSP00000513453.1:n.237-5_237-4del
ENST00000697832.1:n.313-5_313-4del
ENST00000697833.1:c.237-5_237-4del ENSP00000513454.1:n.237-5_237-4del
ENST00000697834.1:n.289-5_289-4del
ENST00000697835.1:c.251_252del ENSP00000513455.1:p.Leu84ProfsTer?
ENST00000697836.1:n.273-5_273-4del
ENST00000697837.1:c.237-5_237-4del ENSP00000513456.1:n.237-5_237-4del
ENST00000697838.1:c.102-5_102-4del ENSP00000513457.1:n.102-5_102-4del
ENST00000697839.1:n.259-5_259-4del
ENST00000697840.1:c.237-5_237-4del ENSP00000513458.1:n.237-5_237-4del
ENST00000697841.1:n.248-5_248-4del
ENST00000697842.1:n.237-5_237-4del
ENST00000375394.7:c.237-5_237-4del MANE Select ENSP00000364543.2:n.237-5_237-4del
ENST00000375394.6:c.237-5_237-4del ENSP00000364543.2:n.237-5_237-4del
ENST00000461073.5:c.237-5_237-4del ENSP00000419905.1:n.237-5_237-4del
ENST00000465703.5:n.289-5_289-4del
ENST00000474839.5:c.126+815_126+816del ENSP00000420470.1:n.126+815_126+816del
ENST00000488648.5:n.313-5_313-4del
ENST00000628157.1:c.126+815_126+816del ENSP00000485707.1:n.126+815_126+816del
NM_006929.4:c.237-5_237-4del NP_008860.4:n.237-5_237-4del
XM_006715168.2:c.237-5_237-4del XP_006715231.1:n.237-5_237-4del
XM_011514815.1:c.237-5_237-4del XP_011513117.1:n.237-5_237-4del
XR_926301.1:n.325-5_325-4del
XM_011514815.3:c.237-5_237-4del XP_011513117.1:n.237-5_237-4del
XR_001743586.2:n.273-5_273-4del
XR_926301.3:n.273-5_273-4del
NM_006929.5:c.237-5_237-4del MANE Select NP_008860.4:n.237-5_237-4del