Canonical Allele Identifier: CA2522779405

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962490_31962491insCTCG , CM000668.2:g.31962490_31962491insCTCG	GRCh38
NC_000006.11:g.31930267_31930268insCTCG , CM000668.1:g.31930267_31930268insCTCG	GRCh37
NC_000006.10:g.32038246_32038247insCTCG	NCBI36
NG_032652.1:g.8687_8688insCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*232_*233insCTCG	ENSP00000419905.1:n.*232_*233insCTCG
ENST00000483553.6:c.1116_1117insCTCG	ENSP00000420332.2:p.Phe373LeufsTer?
ENST00000485349.6:n.1157_1158insCTCG
ENST00000491994.2:c.1116_1117insCTCG	ENSP00000417586.2:p.Phe373LeufsTer?
ENST00000494058.6:n.1173_1174insCTCG
ENST00000697831.1:c.1116_1117insCTCG	ENSP00000513453.1:p.Phe373LeufsTer?
ENST00000697832.1:n.1192_1193insCTCG
ENST00000697833.1:c.1116_1117insCTCG	ENSP00000513454.1:p.Phe373LeufsTer?
ENST00000697834.1:n.1168_1169insCTCG
ENST00000697835.1:c.*634_*635insCTCG	ENSP00000513455.1:n.*634_*635insCTCG
ENST00000697836.1:n.1152_1153insCTCG
ENST00000697837.1:c.1116_1117insCTCG	ENSP00000513456.1:p.Phe373LeufsTer?
ENST00000697838.1:c.981_982insCTCG	ENSP00000513457.1:p.Phe328LeufsTer?
ENST00000697839.1:n.1399_1400insCTCG
ENST00000697840.1:c.1152_1153insCTCG	ENSP00000513458.1:p.Phe385LeufsTer?
ENST00000697841.1:n.1688_1689insCTCG
ENST00000697842.1:n.1116_1117insCTCG
ENST00000375394.7:c.1116_1117insCTCG MANE Select	ENSP00000364543.2:p.Phe373LeufsTer?
ENST00000375394.6:c.1116_1117insCTCG	ENSP00000364543.2:p.Phe373LeufsTer?
ENST00000461073.5:c.*232_*233insCTCG	ENSP00000419905.1:n.*232_*233insCTCG
ENST00000465703.5:n.1429_1430insCTCG
ENST00000466290.1:n.377_378insCTCG
ENST00000474839.5:c.*488_*489insCTCG	ENSP00000420470.1:n.*488_*489insCTCG
NM_006929.4:c.1116_1117insCTCG	NP_008860.4:p.Phe373LeufsTer?
XM_006715168.2:c.1116_1117insCTCG	XP_006715231.1:p.Phe373LeufsTer?
XM_011514815.1:c.1116_1117insCTCG	XP_011513117.1:p.Phe373LeufsTer?
XR_926301.1:n.1204_1205insCTCG
XM_011514815.3:c.1116_1117insCTCG	XP_011513117.1:p.Phe373LeufsTer?
XR_001743586.2:n.1152_1153insCTCG
XR_926301.3:n.1152_1153insCTCG
NM_006929.5:c.1116_1117insCTCG MANE Select	NP_008860.4:p.Phe373LeufsTer?