Canonical Allele Identifier: CA1619384314

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969350_31969351delinsCG , CM000668.2:g.31969350_31969351delinsCG	GRCh38
NC_000006.11:g.31937127_31937128delinsCG , CM000668.1:g.31937127_31937128delinsCG	GRCh37
NC_000006.10:g.32045106_32045107delinsCG	NCBI36
NG_032652.1:g.15547_15548delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2424_*2425delinsCG	ENSP00000419905.1:n.*2424_*2425delinsCG
ENST00000483553.6:c.*437_*438delinsCG	ENSP00000420332.2:n.*437_*438delinsCG
ENST00000485349.6:n.3946_3947delinsCG
ENST00000491994.2:c.3470_3471delinsCG	ENSP00000417586.2:p.Thr1157=
ENST00000494058.6:n.3772_3773delinsCG
ENST00000697831.1:c.3401_3402delinsCG	ENSP00000513453.1:p.Thr1134=
ENST00000697832.1:n.3623_3624delinsCG
ENST00000697833.1:c.*418_*419delinsCG	ENSP00000513454.1:n.*418_*419delinsCG
ENST00000697834.1:n.4094_4095delinsCG
ENST00000697835.1:c.*2988_*2989delinsCG	ENSP00000513455.1:n.*2988_*2989delinsCG
ENST00000697836.1:n.3801_3802delinsCG
ENST00000697837.1:c.*586_*587delinsCG	ENSP00000513456.1:n.*586_*587delinsCG
ENST00000697838.1:c.3335_3336delinsCG	ENSP00000513457.1:p.Thr1112=
ENST00000697839.1:n.4188_4189delinsCG
ENST00000697840.1:c.3506_3507delinsCG	ENSP00000513458.1:p.Thr1169=
ENST00000697841.1:n.4287_4288delinsCG
ENST00000697842.1:n.3725_3726delinsCG
ENST00000375394.7:c.3470_3471delinsCG MANE Select	ENSP00000364543.2:p.Thr1157=
ENST00000375394.6:c.3470_3471delinsCG	ENSP00000364543.2:p.Thr1157=
ENST00000465703.5:n.4106_4107delinsCG
ENST00000470453.1:n.382+34_382+35delinsCG
ENST00000471818.1:n.399_400delinsCG
ENST00000474839.5:c.*2842_*2843delinsCG	ENSP00000420470.1:n.*2842_*2843delinsCG
ENST00000483553.5:c.906_907delinsCG
ENST00000485349.5:n.676_677delinsCG
ENST00000491994.1:c.465_466delinsCG
NM_006929.4:c.3470_3471delinsCG	NP_008860.4:p.Thr1157=
XR_001743586.2:n.3569_3570delinsCG
XR_926301.3:n.3486_3487delinsCG
NM_006929.5:c.3470_3471delinsCG MANE Select	NP_008860.4:p.Thr1157=