Canonical Allele Identifier: CA2751944012

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978502_120978503del , CM000664.2:g.120978502_120978503del	GRCh38
NC_000002.11:g.121736078_121736079del , CM000664.1:g.121736078_121736079del	GRCh37
NC_000002.10:g.121452548_121452549del	NCBI36
NG_009030.1:g.186212_186213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1386_1387del MANE Select	ENSP00000354586.5:p.Glu463AlafsTer?
ENST00000452319.6:c.1437_1438del	ENSP00000390436.1:p.Glu480AlafsTer?
ENST00000314490.15:c.450_451del	ENSP00000312694.12:p.Glu151AlafsTer?
ENST00000341310.10:c.*485_*486del	ENSP00000344473.6:n.*485_*486del
ENST00000361492.8:c.1437_1438del	ENSP00000354586.4:p.Glu480AlafsTer?
ENST00000435313.6:n.1411_1412del
ENST00000437950.5:c.*536_*537del	ENSP00000415773.1:n.*536_*537del
ENST00000438299.5:c.*536_*537del	ENSP00000400593.1:n.*536_*537del
ENST00000445186.5:c.*536_*537del	ENSP00000397488.1:n.*536_*537del
ENST00000452319.5:c.1437_1438del	ENSP00000390436.1:p.Glu480AlafsTer?
ENST00000452692.5:c.*485_*486del	ENSP00000403715.1:n.*485_*486del
NM_005270.4:c.1437_1438del	NP_005261.2:p.Glu480AlafsTer?
XM_006712422.1:c.1386_1387del	XP_006712485.1:p.Glu463AlafsTer?
XM_011510969.1:c.1419_1420del	XP_011509271.1:p.Glu474AlafsTer?
XM_011510970.1:c.1296_1297del	XP_011509272.1:p.Glu433AlafsTer?
XM_011510971.1:c.1242_1243del	XP_011509273.1:p.Glu415AlafsTer?
XM_011510972.1:c.1242_1243del	XP_011509274.1:p.Glu415AlafsTer?
XM_011510973.1:c.1062_1063del	XP_011509275.1:p.Glu355AlafsTer?
XM_011510974.1:c.1011_1012del	XP_011509276.1:p.Glu338AlafsTer?
XM_006712422.3:c.1386_1387del	XP_006712485.1:p.Glu463AlafsTer?
XM_011510969.2:c.1689_1690del	XP_011509271.2:p.Glu564AlafsTer?
XM_011510970.2:c.1296_1297del	XP_011509272.1:p.Glu433AlafsTer?
XM_011510971.2:c.1242_1243del	XP_011509273.1:p.Glu415AlafsTer?
XM_011510972.2:c.1338_1339del	XP_011509274.2:p.Glu447AlafsTer?
XM_011510973.2:c.1062_1063del	XP_011509275.1:p.Glu355AlafsTer?
XM_011510974.2:c.1011_1012del	XP_011509276.1:p.Glu338AlafsTer?
XM_017003818.1:c.1638_1639del	XP_016859307.1:p.Glu547AlafsTer?
XM_024452794.1:c.1437_1438del	XP_024308562.1:p.Glu480AlafsTer?
XM_024452795.1:c.1437_1438del	XP_024308563.1:p.Glu480AlafsTer?
NM_001371271.1:c.1437_1438del	NP_001358200.1:p.Glu480AlafsTer?
NM_001374353.1:c.1386_1387del MANE Select	NP_001361282.1:p.Glu463AlafsTer?
NM_001374354.1:c.1011_1012del	NP_001361283.1:p.Glu338AlafsTer?
NM_005270.5:c.1437_1438del	NP_005261.2:p.Glu480AlafsTer?