Canonical Allele Identifier: CA2580063769

Gene: GLI2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120988267_120988271dup , CM000664.2:g.120988267_120988271dup	GRCh38
NC_000002.11:g.121745843_121745847dup , CM000664.1:g.121745843_121745847dup	GRCh37
NC_000002.10:g.121462313_121462317dup	NCBI36
NG_009030.1:g.195977_195981dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001374353.1:c.2302_2306dup MANE Select	NP_001361282.1:p.Arg770ThrfsTer12
ENST00000361492.9:c.2302_2306dup MANE Select	ENSP00000354586.5:p.Arg770ThrfsTer12
NM_001371271.1:c.2353_2357dup	NP_001358200.1:p.Arg787ThrfsTer12
NM_001374354.1:c.1927_1931dup	NP_001361283.1:p.Arg645ThrfsTer12
NM_005270.4:c.2353_2357dup	NP_005261.2:p.Arg787ThrfsTer12
NM_005270.5:c.2353_2357dup	NP_005261.2:p.Arg787ThrfsTer12
ENST00000314490.15:c.1364_1368dup	ENSP00000312694.12:p.Ala457AsnfsTer?
ENST00000341310.10:c.*1401_*1405dup	ENSP00000344473.6:n.*1401_*1405dup
ENST00000361492.8:c.2353_2357dup	ENSP00000354586.4:p.Arg787ThrfsTer12
ENST00000437950.5:c.*1452_*1456dup	ENSP00000415773.1:n.*1452_*1456dup
ENST00000438299.5:c.*1452_*1456dup	ENSP00000400593.1:n.*1452_*1456dup
ENST00000445186.5:c.*1452_*1456dup	ENSP00000397488.1:n.*1452_*1456dup
ENST00000452319.5:c.2353_2357dup	ENSP00000390436.1:p.Arg787ThrfsTer12
ENST00000452319.6:c.2353_2357dup	ENSP00000390436.1:p.Arg787ThrfsTer12
ENST00000452692.5:c.*1401_*1405dup	ENSP00000403715.1:n.*1401_*1405dup
XM_006712422.1:c.2302_2306dup	XP_006712485.1:p.Arg770ThrfsTer12
XM_006712422.3:c.2302_2306dup	XP_006712485.1:p.Arg770ThrfsTer12
XM_011510969.1:c.2335_2339dup	XP_011509271.1:p.Arg781ThrfsTer12
XM_011510969.2:c.2605_2609dup	XP_011509271.2:p.Arg871ThrfsTer12
XM_011510970.1:c.2212_2216dup	XP_011509272.1:p.Arg740ThrfsTer12
XM_011510970.2:c.2212_2216dup	XP_011509272.1:p.Arg740ThrfsTer12
XM_011510971.1:c.2158_2162dup	XP_011509273.1:p.Arg722ThrfsTer12
XM_011510971.2:c.2158_2162dup	XP_011509273.1:p.Arg722ThrfsTer12
XM_011510972.1:c.2158_2162dup	XP_011509274.1:p.Arg722ThrfsTer12
XM_011510972.2:c.2254_2258dup	XP_011509274.2:p.Arg754ThrfsTer12
XM_011510973.1:c.1978_1982dup	XP_011509275.1:p.Arg662ThrfsTer12
XM_011510973.2:c.1978_1982dup	XP_011509275.1:p.Arg662ThrfsTer12
XM_011510974.1:c.1927_1931dup	XP_011509276.1:p.Arg645ThrfsTer12
XM_011510974.2:c.1927_1931dup	XP_011509276.1:p.Arg645ThrfsTer12
XM_017003818.1:c.2554_2558dup	XP_016859307.1:p.Arg854ThrfsTer12
XM_024452794.1:c.2353_2357dup	XP_024308562.1:p.Arg787ThrfsTer12
XM_024452795.1:c.2353_2357dup	XP_024308563.1:p.Arg787ThrfsTer12