Canonical Allele Identifier: CA1283790738

Gene: GLI2

Linked Data

• dbSNP Id: rs1682576342
• gnomAD v4: 2-120978647-GATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978650_120978652del , CM000664.2:g.120978650_120978652del	GRCh38
NC_000002.11:g.121736226_121736228del , CM000664.1:g.121736226_121736228del	GRCh37
NC_000002.10:g.121452696_121452698del	NCBI36
NG_009030.1:g.186360_186362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1467+67_1467+69del MANE Select	ENSP00000354586.5:n.1467+67_1467+69del
ENST00000452319.6:c.1518+67_1518+69del	ENSP00000390436.1:n.1518+67_1518+69del
ENST00000314490.15:c.531+67_531+69del	ENSP00000312694.12:n.531+67_531+69del
ENST00000341310.10:c.*566+67_*566+69del	ENSP00000344473.6:n.*566+67_*566+69del
ENST00000361492.8:c.1518+67_1518+69del	ENSP00000354586.4:n.1518+67_1518+69del
ENST00000435313.6:n.1492+67_1492+69del
ENST00000437950.5:c.*617+67_*617+69del	ENSP00000415773.1:n.*617+67_*617+69del
ENST00000438299.5:c.*617+67_*617+69del	ENSP00000400593.1:n.*617+67_*617+69del
ENST00000445186.5:c.*617+67_*617+69del	ENSP00000397488.1:n.*617+67_*617+69del
ENST00000452319.5:c.1518+67_1518+69del	ENSP00000390436.1:n.1518+67_1518+69del
ENST00000452692.5:c.*566+67_*566+69del	ENSP00000403715.1:n.*566+67_*566+69del
NM_005270.4:c.1518+67_1518+69del	NP_005261.2:n.1518+67_1518+69del
XM_006712422.1:c.1467+67_1467+69del	XP_006712485.1:n.1467+67_1467+69del
XM_011510969.1:c.1500+67_1500+69del	XP_011509271.1:n.1500+67_1500+69del
XM_011510970.1:c.1377+67_1377+69del	XP_011509272.1:n.1377+67_1377+69del
XM_011510971.1:c.1323+67_1323+69del	XP_011509273.1:n.1323+67_1323+69del
XM_011510972.1:c.1323+67_1323+69del	XP_011509274.1:n.1323+67_1323+69del
XM_011510973.1:c.1143+67_1143+69del	XP_011509275.1:n.1143+67_1143+69del
XM_011510974.1:c.1092+67_1092+69del	XP_011509276.1:n.1092+67_1092+69del
XM_006712422.3:c.1467+67_1467+69del	XP_006712485.1:n.1467+67_1467+69del
XM_011510969.2:c.1770+67_1770+69del	XP_011509271.2:n.1770+67_1770+69del
XM_011510970.2:c.1377+67_1377+69del	XP_011509272.1:n.1377+67_1377+69del
XM_011510971.2:c.1323+67_1323+69del	XP_011509273.1:n.1323+67_1323+69del
XM_011510972.2:c.1419+67_1419+69del	XP_011509274.2:n.1419+67_1419+69del
XM_011510973.2:c.1143+67_1143+69del	XP_011509275.1:n.1143+67_1143+69del
XM_011510974.2:c.1092+67_1092+69del	XP_011509276.1:n.1092+67_1092+69del
XM_017003818.1:c.1719+67_1719+69del	XP_016859307.1:n.1719+67_1719+69del
XM_024452794.1:c.1518+67_1518+69del	XP_024308562.1:n.1518+67_1518+69del
XM_024452795.1:c.1518+67_1518+69del	XP_024308563.1:n.1518+67_1518+69del
NM_001371271.1:c.1518+67_1518+69del	NP_001358200.1:n.1518+67_1518+69del
NM_001374353.1:c.1467+67_1467+69del MANE Select	NP_001361282.1:n.1467+67_1467+69del
NM_001374354.1:c.1092+67_1092+69del	NP_001361283.1:n.1092+67_1092+69del
NM_005270.5:c.1518+67_1518+69del	NP_005261.2:n.1518+67_1518+69del