Canonical Allele Identifier: CA2578573088

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960038del , CM000668.2:g.31960038del	GRCh38
NC_000006.11:g.31927815del , CM000668.1:g.31927815del	GRCh37
NC_000006.10:g.32035794del	NCBI36
NG_032652.1:g.6235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.155del	ENSP00000419905.1:p.Pro52GlnfsTer?
ENST00000483553.6:c.155del	ENSP00000420332.2:p.Pro52GlnfsTer?
ENST00000485349.6:n.196del
ENST00000491994.2:c.155del	ENSP00000417586.2:p.Pro52GlnfsTer?
ENST00000494058.6:n.212del
ENST00000697831.1:c.155del	ENSP00000513453.1:p.Pro52GlnfsTer?
ENST00000697832.1:n.231del
ENST00000697833.1:c.155del	ENSP00000513454.1:p.Pro52GlnfsTer?
ENST00000697834.1:n.207del
ENST00000697835.1:c.155del	ENSP00000513455.1:p.Pro52GlnfsTer?
ENST00000697836.1:n.191del
ENST00000697837.1:c.155del	ENSP00000513456.1:p.Pro52GlnfsTer?
ENST00000697838.1:c.23-3del	ENSP00000513457.1:n.23-3del
ENST00000697839.1:n.177del
ENST00000697840.1:c.155del	ENSP00000513458.1:p.Pro52GlnfsTer?
ENST00000697841.1:n.166del
ENST00000697842.1:n.155del
ENST00000375394.7:c.155del MANE Select	ENSP00000364543.2:p.Pro52GlnfsTer?
ENST00000375394.6:c.155del	ENSP00000364543.2:p.Pro52GlnfsTer?
ENST00000461073.5:c.155del	ENSP00000419905.1:p.Pro52GlnfsTer?
ENST00000465703.5:n.207del
ENST00000474839.5:c.126+638del	ENSP00000420470.1:n.126+638del
ENST00000488648.5:n.231del
ENST00000628157.1:c.126+638del	ENSP00000485707.1:n.126+638del
NM_006929.4:c.155del	NP_008860.4:p.Pro52GlnfsTer?
XM_006715168.2:c.155del	XP_006715231.1:p.Pro52GlnfsTer?
XM_011514815.1:c.155del	XP_011513117.1:p.Pro52GlnfsTer?
XR_926301.1:n.243del
XM_011514815.3:c.155del	XP_011513117.1:p.Pro52GlnfsTer?
XR_001743586.2:n.191del
XR_926301.3:n.191del
NM_006929.5:c.155del MANE Select	NP_008860.4:p.Pro52GlnfsTer?