Canonical Allele Identifier: CA1283795457

Gene: GLI2

Linked Data

• dbSNP Id: rs1683143114
• gnomAD v4: 2-120989085-G-GGACGACCTGGTGCTTCCAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989090_120989110dup , CM000664.2:g.120989090_120989110dup	GRCh38
NC_000002.11:g.121746666_121746686dup , CM000664.1:g.121746666_121746686dup	GRCh37
NC_000002.10:g.121463136_121463156dup	NCBI36
NG_009030.1:g.196800_196820dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3125_3145dup MANE Select	ENSP00000354586.5:p.Asp1048_Val1049insAsp...
ENST00000452319.6:c.3176_3196dup	ENSP00000390436.1:p.Asp1065_Val1066insAsp...
ENST00000341310.10:c.*2224_*2244dup	ENSP00000344473.6:n.*2224_*2244dup
ENST00000361492.8:c.3176_3196dup	ENSP00000354586.4:p.Asp1065_Val1066insAsp...
ENST00000438299.5:c.*2275_*2295dup	ENSP00000400593.1:n.*2275_*2295dup
ENST00000445186.5:c.*2275_*2295dup	ENSP00000397488.1:n.*2275_*2295dup
ENST00000452319.5:c.3176_3196dup	ENSP00000390436.1:p.Asp1065_Val1066insAsp...
ENST00000452692.5:c.*2224_*2244dup	ENSP00000403715.1:n.*2224_*2244dup
NM_005270.4:c.3176_3196dup	NP_005261.2:p.Asp1065_Val1066insAspLeuVal...
XM_006712422.1:c.3125_3145dup	XP_006712485.1:p.Asp1048_Val1049insAspLeu...
XM_011510969.1:c.3158_3178dup	XP_011509271.1:p.Asp1059_Val1060insAspLeu...
XM_011510970.1:c.3035_3055dup	XP_011509272.1:p.Asp1018_Val1019insAspLeu...
XM_011510971.1:c.2981_3001dup	XP_011509273.1:p.Asp1000_Val1001insAspLeu...
XM_011510972.1:c.2981_3001dup	XP_011509274.1:p.Asp1000_Val1001insAspLeu...
XM_011510973.1:c.2801_2821dup	XP_011509275.1:p.Asp940_Val941insAspLeuVa...
XM_011510974.1:c.2750_2770dup	XP_011509276.1:p.Asp923_Val924insAspLeuVa...
XM_006712422.3:c.3125_3145dup	XP_006712485.1:p.Asp1048_Val1049insAspLeu...
XM_011510969.2:c.3428_3448dup	XP_011509271.2:p.Asp1149_Val1150insAspLeu...
XM_011510970.2:c.3035_3055dup	XP_011509272.1:p.Asp1018_Val1019insAspLeu...
XM_011510971.2:c.2981_3001dup	XP_011509273.1:p.Asp1000_Val1001insAspLeu...
XM_011510972.2:c.3077_3097dup	XP_011509274.2:p.Asp1032_Val1033insAspLeu...
XM_011510973.2:c.2801_2821dup	XP_011509275.1:p.Asp940_Val941insAspLeuVa...
XM_011510974.2:c.2750_2770dup	XP_011509276.1:p.Asp923_Val924insAspLeuVa...
XM_017003818.1:c.3377_3397dup	XP_016859307.1:p.Asp1132_Val1133insAspLeu...
XM_024452794.1:c.3176_3196dup	XP_024308562.1:p.Asp1065_Val1066insAspLeu...
XM_024452795.1:c.3176_3196dup	XP_024308563.1:p.Asp1065_Val1066insAspLeu...
NM_001371271.1:c.3176_3196dup	NP_001358200.1:p.Asp1065_Val1066insAspLeu...
NM_001374353.1:c.3125_3145dup MANE Select	NP_001361282.1:p.Asp1048_Val1049insAspLeu...
NM_001374354.1:c.2750_2770dup	NP_001361283.1:p.Asp923_Val924insAspLeuVa...
NM_005270.5:c.3176_3196dup	NP_005261.2:p.Asp1065_Val1066insAspLeuVal...