Canonical Allele Identifier: CA2580077129

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2019517
• ClinVar RCV Id: RCV002871086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967882del , CM000669.2:g.41967882del	GRCh38
NC_000007.13:g.42007480del , CM000669.1:g.42007480del	GRCh37
NC_000007.12:g.41974005del	NCBI36
NG_008434.1:g.274140del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2146del MANE Select	ENSP00000379258.3:p.Gln716AsnfsTer17
ENST00000677288.1:c.1972del	ENSP00000503986.1:p.Gln658AsnfsTer17
ENST00000677605.1:c.2146del	ENSP00000503743.1:p.Gln716AsnfsTer17
ENST00000678429.1:c.2146del	ENSP00000502957.1:p.Gln716AsnfsTer17
ENST00000395925.7:c.2146del	ENSP00000379258.3:p.Gln716AsnfsTer17
ENST00000479210.1:n.2123del
NM_000168.5:c.2146del	NP_000159.3:p.Gln716AsnfsTer17
XM_005249703.1:c.2146del	XP_005249760.1:p.Gln716AsnfsTer17
XM_005249704.2:c.2146del	XP_005249761.1:p.Gln716AsnfsTer17
XM_011515272.1:c.2146del	XP_011513574.1:p.Gln716AsnfsTer17
XM_011515273.1:c.2146del	XP_011513575.1:p.Gln716AsnfsTer17
XM_011515274.1:c.1969del	XP_011513576.1:p.Gln657AsnfsTer17
XM_011515274.2:c.1969del	XP_011513576.1:p.Gln657AsnfsTer17
XM_017011997.1:c.2143del	XP_016867486.1:p.Gln715AsnfsTer17
NM_000168.6:c.2146del MANE Select	NP_000159.3:p.Gln716AsnfsTer17