Canonical Allele Identifier: CA2582341644

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2584417
• ClinVar RCV Id: RCV003335857

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965849del , CM000669.2:g.41965849del	GRCh38
NC_000007.13:g.42005447del , CM000669.1:g.42005447del	GRCh37
NC_000007.12:g.41971972del	NCBI36
NG_008434.1:g.276172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3224del MANE Select	ENSP00000379258.3:p.Leu1075ArgfsTer4
ENST00000677288.1:c.3050del	ENSP00000503986.1:p.Leu1017ArgfsTer4
ENST00000677605.1:c.3224del	ENSP00000503743.1:p.Leu1075ArgfsTer4
ENST00000678429.1:c.3224del	ENSP00000502957.1:p.Leu1075ArgfsTer4
ENST00000395925.7:c.3224del	ENSP00000379258.3:p.Leu1075ArgfsTer4
ENST00000479210.1:n.3201del
NM_000168.5:c.3224del	NP_000159.3:p.Leu1075ArgfsTer4
XM_005249703.1:c.3224del	XP_005249760.1:p.Leu1075ArgfsTer4
XM_005249704.2:c.3224del	XP_005249761.1:p.Leu1075ArgfsTer4
XM_011515272.1:c.3224del	XP_011513574.1:p.Leu1075ArgfsTer4
XM_011515273.1:c.3224del	XP_011513575.1:p.Leu1075ArgfsTer4
XM_011515274.1:c.3047del	XP_011513576.1:p.Leu1016ArgfsTer4
XM_011515274.2:c.3047del	XP_011513576.1:p.Leu1016ArgfsTer4
XM_017011997.1:c.3221del	XP_016867486.1:p.Leu1074ArgfsTer4
NM_000168.6:c.3224del MANE Select	NP_000159.3:p.Leu1075ArgfsTer4