Canonical Allele Identifier: CA2660922225

Gene: GLI2

Linked Data

• gnomAD v4: 2-120989066-CCGACCTGGGGCTGCCGGAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989075_120989095del , CM000664.2:g.120989075_120989095del	GRCh38
NC_000002.11:g.121746651_121746671del , CM000664.1:g.121746651_121746671del	GRCh37
NC_000002.10:g.121463121_121463141del	NCBI36
NG_009030.1:g.196785_196805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3110_3130del MANE Select	ENSP00000354586.5:p.Gly1037_Leu1043del
ENST00000452319.6:c.3161_3181del	ENSP00000390436.1:p.Gly1054_Leu1060del
ENST00000341310.10:c.*2209_*2229del	ENSP00000344473.6:n.*2209_*2229del
ENST00000361492.8:c.3161_3181del	ENSP00000354586.4:p.Gly1054_Leu1060del
ENST00000438299.5:c.*2260_*2280del	ENSP00000400593.1:n.*2260_*2280del
ENST00000445186.5:c.*2260_*2280del	ENSP00000397488.1:n.*2260_*2280del
ENST00000452319.5:c.3161_3181del	ENSP00000390436.1:p.Gly1054_Leu1060del
ENST00000452692.5:c.*2209_*2229del	ENSP00000403715.1:n.*2209_*2229del
NM_005270.4:c.3161_3181del	NP_005261.2:p.Gly1054_Leu1060del
XM_006712422.1:c.3110_3130del	XP_006712485.1:p.Gly1037_Leu1043del
XM_011510969.1:c.3143_3163del	XP_011509271.1:p.Gly1048_Leu1054del
XM_011510970.1:c.3020_3040del	XP_011509272.1:p.Gly1007_Leu1013del
XM_011510971.1:c.2966_2986del	XP_011509273.1:p.Gly989_Leu995del
XM_011510972.1:c.2966_2986del	XP_011509274.1:p.Gly989_Leu995del
XM_011510973.1:c.2786_2806del	XP_011509275.1:p.Gly929_Leu935del
XM_011510974.1:c.2735_2755del	XP_011509276.1:p.Gly912_Leu918del
XM_006712422.3:c.3110_3130del	XP_006712485.1:p.Gly1037_Leu1043del
XM_011510969.2:c.3413_3433del	XP_011509271.2:p.Gly1138_Leu1144del
XM_011510970.2:c.3020_3040del	XP_011509272.1:p.Gly1007_Leu1013del
XM_011510971.2:c.2966_2986del	XP_011509273.1:p.Gly989_Leu995del
XM_011510972.2:c.3062_3082del	XP_011509274.2:p.Gly1021_Leu1027del
XM_011510973.2:c.2786_2806del	XP_011509275.1:p.Gly929_Leu935del
XM_011510974.2:c.2735_2755del	XP_011509276.1:p.Gly912_Leu918del
XM_017003818.1:c.3362_3382del	XP_016859307.1:p.Gly1121_Leu1127del
XM_024452794.1:c.3161_3181del	XP_024308562.1:p.Gly1054_Leu1060del
XM_024452795.1:c.3161_3181del	XP_024308563.1:p.Gly1054_Leu1060del
NM_001371271.1:c.3161_3181del	NP_001358200.1:p.Gly1054_Leu1060del
NM_001374353.1:c.3110_3130del MANE Select	NP_001361282.1:p.Gly1037_Leu1043del
NM_001374354.1:c.2735_2755del	NP_001361283.1:p.Gly912_Leu918del
NM_005270.5:c.3161_3181del	NP_005261.2:p.Gly1054_Leu1060del