Canonical Allele Identifier: CA454661849

Gene: GLI3

Linked Data

• gnomAD v4: 7-41965974-CG-C
• COSMIC: COSM1450717
• MyVariant Identifiers: chr7:g.42005573del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965980del , CM000669.2:g.41965980del	GRCh38
NC_000007.13:g.42005578del , CM000669.1:g.42005578del	GRCh37
NC_000007.12:g.41972103del	NCBI36
NG_008434.1:g.276046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3098del MANE Select	ENSP00000379258.3:p.Pro1033ArgfsTer?
ENST00000677288.1:c.2924del	ENSP00000503986.1:p.Pro975ArgfsTer?
ENST00000677605.1:c.3098del	ENSP00000503743.1:p.Pro1033ArgfsTer?
ENST00000678429.1:c.3098del	ENSP00000502957.1:p.Pro1033ArgfsTer?
ENST00000395925.7:c.3098del	ENSP00000379258.3:p.Pro1033ArgfsTer?
ENST00000479210.1:n.3075del
NM_000168.5:c.3098del	NP_000159.3:p.Pro1033ArgfsTer?
XM_005249703.1:c.3098del	XP_005249760.1:p.Pro1033ArgfsTer?
XM_005249704.2:c.3098del	XP_005249761.1:p.Pro1033ArgfsTer?
XM_011515272.1:c.3098del	XP_011513574.1:p.Pro1033ArgfsTer?
XM_011515273.1:c.3098del	XP_011513575.1:p.Pro1033ArgfsTer?
XM_011515274.1:c.2921del	XP_011513576.1:p.Pro974ArgfsTer?
XM_011515274.2:c.2921del	XP_011513576.1:p.Pro974ArgfsTer?
XM_017011997.1:c.3095del	XP_016867486.1:p.Pro1032ArgfsTer?
NM_000168.6:c.3098del MANE Select	NP_000159.3:p.Pro1033ArgfsTer?