Canonical Allele Identifier: CA2950981521

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120968870_120968871delinsTA , CM000664.2:g.120968870_120968871delinsTA	GRCh38
NC_000002.11:g.121726446_121726447delinsTA , CM000664.1:g.121726446_121726447delinsTA	GRCh37
NC_000002.10:g.121442916_121442917delinsTA	NCBI36
NG_009030.1:g.176580_176581delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.800_801delinsTA MANE Select	ENSP00000354586.5:p.Ser267Leu
ENST00000452319.6:c.800_801delinsTA	ENSP00000390436.1:p.Ser267Leu
ENST00000314490.15:c.-139-1523_-139-1522delinsTA	ENSP00000312694.12:n.-139-1523_-139-1522delinsTA
ENST00000341310.10:c.149-1523_149-1522delinsTA	ENSP00000344473.6:n.149-1523_149-1522delinsTA
ENST00000360874.10:c.387_388delinsTA	ENSP00000441454.1:p.Gly130Ser
ENST00000361492.8:c.800_801delinsTA	ENSP00000354586.4:p.Ser267Leu
ENST00000433812.1:c.670_671delinsTA	ENSP00000402383.1:n.670_671delinsTA
ENST00000435313.6:n.825_826delinsTA
ENST00000437950.5:c.149-1523_149-1522delinsTA	ENSP00000415773.1:n.149-1523_149-1522delinsTA
ENST00000438299.5:c.149-1523_149-1522delinsTA	ENSP00000400593.1:n.149-1523_149-1522delinsTA
ENST00000445186.5:c.149-1523_149-1522delinsTA	ENSP00000397488.1:n.149-1523_149-1522delinsTA
ENST00000452319.5:c.800_801delinsTA	ENSP00000390436.1:p.Ser267Leu
ENST00000452692.5:c.149-1523_149-1522delinsTA	ENSP00000403715.1:n.149-1523_149-1522delinsTA
NM_005270.4:c.800_801delinsTA	NP_005261.2:p.Ser267Leu
XM_006712422.1:c.800_801delinsTA	XP_006712485.1:p.Ser267Leu
XM_011510969.1:c.782_783delinsTA	XP_011509271.1:p.Ser261Leu
XM_011510970.1:c.659_660delinsTA	XP_011509272.1:p.Ser220Leu
XM_011510971.1:c.605_606delinsTA	XP_011509273.1:p.Ser202Leu
XM_011510972.1:c.605_606delinsTA	XP_011509274.1:p.Ser202Leu
XM_011510973.1:c.425_426delinsTA	XP_011509275.1:p.Ser142Leu
XM_011510974.1:c.425_426delinsTA	XP_011509276.1:p.Ser142Leu
XM_006712422.3:c.800_801delinsTA	XP_006712485.1:p.Ser267Leu
XM_011510969.2:c.1052_1053delinsTA	XP_011509271.2:p.Ser351Leu
XM_011510970.2:c.659_660delinsTA	XP_011509272.1:p.Ser220Leu
XM_011510971.2:c.605_606delinsTA	XP_011509273.1:p.Ser202Leu
XM_011510972.2:c.701_702delinsTA	XP_011509274.2:p.Ser234Leu
XM_011510973.2:c.425_426delinsTA	XP_011509275.1:p.Ser142Leu
XM_011510974.2:c.425_426delinsTA	XP_011509276.1:p.Ser142Leu
XM_017003818.1:c.1052_1053delinsTA	XP_016859307.1:p.Ser351Leu
XM_024452794.1:c.800_801delinsTA	XP_024308562.1:p.Ser267Leu
XM_024452795.1:c.800_801delinsTA	XP_024308563.1:p.Ser267Leu
NM_001371271.1:c.800_801delinsTA	NP_001358200.1:p.Ser267Leu
NM_001374353.1:c.800_801delinsTA MANE Select	NP_001361282.1:p.Ser267Leu
NM_001374354.1:c.425_426delinsTA	NP_001361283.1:p.Ser142Leu
NM_005270.5:c.800_801delinsTA	NP_005261.2:p.Ser267Leu