Canonical Allele Identifier: CA2619456621

Gene: GLI1

Linked Data

• gnomAD v4: 12-57466060-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57466062_57466063del , CM000674.2:g.57466062_57466063del	GRCh38
NC_000012.11:g.57859845_57859846del , CM000674.1:g.57859845_57859846del	GRCh37
NC_000012.10:g.56146112_56146113del	NCBI36
NG_029564.1:g.10928_10929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000228682.7:c.762+137_762+138del MANE Select	ENSP00000228682.2:n.762+137_762+138del
ENST00000228682.6:c.762+137_762+138del	ENSP00000228682.2:n.762+137_762+138del
ENST00000527742.1:n.597_598del
ENST00000528467.1:c.639+137_639+138del	ENSP00000434408.1:n.639+137_639+138del
ENST00000532291.5:c.378+137_378+138del	ENSP00000436671.1:n.378+137_378+138del
ENST00000543426.5:c.378+137_378+138del	ENSP00000437607.1:n.378+137_378+138del
ENST00000546141.5:c.639+137_639+138del	ENSP00000441006.1:n.639+137_639+138del
NM_001160045.1:c.378+137_378+138del	NP_001153517.1:n.378+137_378+138del
NM_001167609.1:c.639+137_639+138del	NP_001161081.1:n.639+137_639+138del
NM_005269.2:c.762+137_762+138del	NP_005260.1:n.762+137_762+138del
XM_005268799.2:c.378+137_378+138del	XP_005268856.1:n.378+137_378+138del
XM_011538189.1:c.762+137_762+138del	XP_011536491.1:n.762+137_762+138del
XM_011538190.1:c.762+137_762+138del	XP_011536492.1:n.762+137_762+138del
XM_011538189.2:c.762+137_762+138del	XP_011536491.1:n.762+137_762+138del
XM_011538190.2:c.762+137_762+138del	XP_011536492.1:n.762+137_762+138del
NM_005269.3:c.762+137_762+138del MANE Select	NP_005260.1:n.762+137_762+138del
NM_001160045.2:c.378+137_378+138del	NP_001153517.1:n.378+137_378+138del
NM_001167609.2:c.639+137_639+138del	NP_001161081.1:n.639+137_639+138del