Canonical Allele Identifier: CA1283790649

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978438_120978441delinsTCAA , CM000664.2:g.120978438_120978441delinsTCAA	GRCh38
NC_000002.11:g.121736014_121736017delinsTCAA , CM000664.1:g.121736014_121736017delinsTCAA	GRCh37
NC_000002.10:g.121452484_121452487delinsTCAA	NCBI36
NG_009030.1:g.186148_186151delinsTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1322_1325delinsTCAA MANE Select	ENSP00000354586.5:p.Ile441=
ENST00000452319.6:c.1373_1376delinsTCAA	ENSP00000390436.1:p.Ile458=
ENST00000314490.15:c.386_389delinsTCAA	ENSP00000312694.12:p.Ile129=
ENST00000341310.10:c.*421_*424delinsTCAA	ENSP00000344473.6:n.*421_*424delinsTCAA
ENST00000361492.8:c.1373_1376delinsTCAA	ENSP00000354586.4:p.Ile458=
ENST00000435313.6:n.1347_1350delinsTCAA
ENST00000437950.5:c.*472_*475delinsTCAA	ENSP00000415773.1:n.*472_*475delinsTCAA
ENST00000438299.5:c.*472_*475delinsTCAA	ENSP00000400593.1:n.*472_*475delinsTCAA
ENST00000445186.5:c.*472_*475delinsTCAA	ENSP00000397488.1:n.*472_*475delinsTCAA
ENST00000452319.5:c.1373_1376delinsTCAA	ENSP00000390436.1:p.Ile458=
ENST00000452692.5:c.*421_*424delinsTCAA	ENSP00000403715.1:n.*421_*424delinsTCAA
NM_005270.4:c.1373_1376delinsTCAA	NP_005261.2:p.Ile458=
XM_006712422.1:c.1322_1325delinsTCAA	XP_006712485.1:p.Ile441=
XM_011510969.1:c.1355_1358delinsTCAA	XP_011509271.1:p.Ile452=
XM_011510970.1:c.1232_1235delinsTCAA	XP_011509272.1:p.Ile411=
XM_011510971.1:c.1178_1181delinsTCAA	XP_011509273.1:p.Ile393=
XM_011510972.1:c.1178_1181delinsTCAA	XP_011509274.1:p.Ile393=
XM_011510973.1:c.998_1001delinsTCAA	XP_011509275.1:p.Ile333=
XM_011510974.1:c.947_950delinsTCAA	XP_011509276.1:p.Ile316=
XM_006712422.3:c.1322_1325delinsTCAA	XP_006712485.1:p.Ile441=
XM_011510969.2:c.1625_1628delinsTCAA	XP_011509271.2:p.Ile542=
XM_011510970.2:c.1232_1235delinsTCAA	XP_011509272.1:p.Ile411=
XM_011510971.2:c.1178_1181delinsTCAA	XP_011509273.1:p.Ile393=
XM_011510972.2:c.1274_1277delinsTCAA	XP_011509274.2:p.Ile425=
XM_011510973.2:c.998_1001delinsTCAA	XP_011509275.1:p.Ile333=
XM_011510974.2:c.947_950delinsTCAA	XP_011509276.1:p.Ile316=
XM_017003818.1:c.1574_1577delinsTCAA	XP_016859307.1:p.Ile525=
XM_024452794.1:c.1373_1376delinsTCAA	XP_024308562.1:p.Ile458=
XM_024452795.1:c.1373_1376delinsTCAA	XP_024308563.1:p.Ile458=
NM_001371271.1:c.1373_1376delinsTCAA	NP_001358200.1:p.Ile458=
NM_001374353.1:c.1322_1325delinsTCAA MANE Select	NP_001361282.1:p.Ile441=
NM_001374354.1:c.947_950delinsTCAA	NP_001361283.1:p.Ile316=
NM_005270.5:c.1373_1376delinsTCAA	NP_005261.2:p.Ile458=