Canonical Allele Identifier: CA2660920929

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978463-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978464_120978465del , CM000664.2:g.120978464_120978465del	GRCh38
NC_000002.11:g.121736040_121736041del , CM000664.1:g.121736040_121736041del	GRCh37
NC_000002.10:g.121452510_121452511del	NCBI36
NG_009030.1:g.186174_186175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1348_1349del MANE Select	ENSP00000354586.5:p.Lys450GlufsTer?
ENST00000452319.6:c.1399_1400del	ENSP00000390436.1:p.Lys467GlufsTer?
ENST00000314490.15:c.412_413del	ENSP00000312694.12:p.Lys138GlufsTer?
ENST00000341310.10:c.*447_*448del	ENSP00000344473.6:n.*447_*448del
ENST00000361492.8:c.1399_1400del	ENSP00000354586.4:p.Lys467GlufsTer?
ENST00000435313.6:n.1373_1374del
ENST00000437950.5:c.*498_*499del	ENSP00000415773.1:n.*498_*499del
ENST00000438299.5:c.*498_*499del	ENSP00000400593.1:n.*498_*499del
ENST00000445186.5:c.*498_*499del	ENSP00000397488.1:n.*498_*499del
ENST00000452319.5:c.1399_1400del	ENSP00000390436.1:p.Lys467GlufsTer?
ENST00000452692.5:c.*447_*448del	ENSP00000403715.1:n.*447_*448del
NM_005270.4:c.1399_1400del	NP_005261.2:p.Lys467GlufsTer?
XM_006712422.1:c.1348_1349del	XP_006712485.1:p.Lys450GlufsTer?
XM_011510969.1:c.1381_1382del	XP_011509271.1:p.Lys461GlufsTer?
XM_011510970.1:c.1258_1259del	XP_011509272.1:p.Lys420GlufsTer?
XM_011510971.1:c.1204_1205del	XP_011509273.1:p.Lys402GlufsTer?
XM_011510972.1:c.1204_1205del	XP_011509274.1:p.Lys402GlufsTer?
XM_011510973.1:c.1024_1025del	XP_011509275.1:p.Lys342GlufsTer?
XM_011510974.1:c.973_974del	XP_011509276.1:p.Lys325GlufsTer?
XM_006712422.3:c.1348_1349del	XP_006712485.1:p.Lys450GlufsTer?
XM_011510969.2:c.1651_1652del	XP_011509271.2:p.Lys551GlufsTer?
XM_011510970.2:c.1258_1259del	XP_011509272.1:p.Lys420GlufsTer?
XM_011510971.2:c.1204_1205del	XP_011509273.1:p.Lys402GlufsTer?
XM_011510972.2:c.1300_1301del	XP_011509274.2:p.Lys434GlufsTer?
XM_011510973.2:c.1024_1025del	XP_011509275.1:p.Lys342GlufsTer?
XM_011510974.2:c.973_974del	XP_011509276.1:p.Lys325GlufsTer?
XM_017003818.1:c.1600_1601del	XP_016859307.1:p.Lys534GlufsTer?
XM_024452794.1:c.1399_1400del	XP_024308562.1:p.Lys467GlufsTer?
XM_024452795.1:c.1399_1400del	XP_024308563.1:p.Lys467GlufsTer?
NM_001371271.1:c.1399_1400del	NP_001358200.1:p.Lys467GlufsTer?
NM_001374353.1:c.1348_1349del MANE Select	NP_001361282.1:p.Lys450GlufsTer?
NM_001374354.1:c.973_974del	NP_001361283.1:p.Lys325GlufsTer?
NM_005270.5:c.1399_1400del	NP_005261.2:p.Lys467GlufsTer?