Canonical Allele Identifier: CA2038889593

Gene: GLI1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57471805del , CM000674.2:g.57471805del	GRCh38
NC_000012.11:g.57865588del , CM000674.1:g.57865588del	GRCh37
NC_000012.10:g.56151855del	NCBI36
NG_023205.1:g.13050del
NG_029564.1:g.16671del
NG_023205.2:g.22014del

Transcript Alleles

HGVS	Amino-acid Change
NM_005269.3:c.3065del MANE Select	NP_005260.1:p.Gly1022ValfsTer?
ENST00000228682.7:c.3065del MANE Select	ENSP00000228682.2:p.Gly1022ValfsTer?
NM_001160045.1:c.2681del	NP_001153517.1:p.Gly894ValfsTer?
NM_001160045.2:c.2681del	NP_001153517.1:p.Gly894ValfsTer?
NM_001167609.1:c.2942del	NP_001161081.1:p.Gly981ValfsTer?
NM_001167609.2:c.2942del	NP_001161081.1:p.Gly981ValfsTer?
NM_005269.2:c.3065del	NP_005260.1:p.Gly1022ValfsTer?
ENST00000228682.6:c.3065del	ENSP00000228682.2:p.Gly1022ValfsTer?
ENST00000528467.1:c.2942del	ENSP00000434408.1:p.Gly981ValfsTer?
ENST00000543426.5:c.2681del	ENSP00000437607.1:p.Gly894ValfsTer?
ENST00000546141.5:c.2942del	ENSP00000441006.1:p.Gly981ValfsTer?
XM_005268799.2:c.2681del	XP_005268856.1:p.Gly894ValfsTer?
XM_011538189.1:c.3065del	XP_011536491.1:p.Gly1022ValfsTer?
XM_011538189.2:c.3065del	XP_011536491.1:p.Gly1022ValfsTer?
XM_011538190.1:c.2834del	XP_011536492.1:p.Gly945ValfsTer?
XM_011538190.2:c.2834del	XP_011536492.1:p.Gly945ValfsTer?