Canonical Allele Identifier: CA1619384306

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969336_31969337delinsTG , CM000668.2:g.31969336_31969337delinsTG	GRCh38
NC_000006.11:g.31937113_31937114delinsTG , CM000668.1:g.31937113_31937114delinsTG	GRCh37
NC_000006.10:g.32045092_32045093delinsTG	NCBI36
NG_032652.1:g.15533_15534delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2410_*2411delinsTG	ENSP00000419905.1:n.*2410_*2411delinsTG
ENST00000483553.6:c.*423_*424delinsTG	ENSP00000420332.2:n.*423_*424delinsTG
ENST00000485349.6:n.3932_3933delinsTG
ENST00000491994.2:c.3456_3457delinsTG	ENSP00000417586.2:p.Cys1152=
ENST00000494058.6:n.3758_3759delinsTG
ENST00000697831.1:c.3387_3388delinsTG	ENSP00000513453.1:p.Cys1129=
ENST00000697832.1:n.3609_3610delinsTG
ENST00000697833.1:c.*404_*405delinsTG	ENSP00000513454.1:n.*404_*405delinsTG
ENST00000697834.1:n.4080_4081delinsTG
ENST00000697835.1:c.*2974_*2975delinsTG	ENSP00000513455.1:n.*2974_*2975delinsTG
ENST00000697836.1:n.3787_3788delinsTG
ENST00000697837.1:c.*572_*573delinsTG	ENSP00000513456.1:n.*572_*573delinsTG
ENST00000697838.1:c.3321_3322delinsTG	ENSP00000513457.1:p.Cys1107=
ENST00000697839.1:n.4174_4175delinsTG
ENST00000697840.1:c.3492_3493delinsTG	ENSP00000513458.1:p.Cys1164=
ENST00000697841.1:n.4273_4274delinsTG
ENST00000697842.1:n.3711_3712delinsTG
ENST00000375394.7:c.3456_3457delinsTG MANE Select	ENSP00000364543.2:p.Cys1152=
ENST00000375394.6:c.3456_3457delinsTG	ENSP00000364543.2:p.Cys1152=
ENST00000465703.5:n.4092_4093delinsTG
ENST00000470453.1:n.382+20_382+21delinsTG
ENST00000471818.1:n.385_386delinsTG
ENST00000474839.5:c.*2828_*2829delinsTG	ENSP00000420470.1:n.*2828_*2829delinsTG
ENST00000483553.5:c.892_893delinsTG
ENST00000485349.5:n.662_663delinsTG
ENST00000491994.1:c.451_452delinsTG
NM_006929.4:c.3456_3457delinsTG	NP_008860.4:p.Cys1152=
XR_001743586.2:n.3555_3556delinsTG
XR_926301.3:n.3472_3473delinsTG
NM_006929.5:c.3456_3457delinsTG MANE Select	NP_008860.4:p.Cys1152=