Canonical Allele Identifier: CA2682512071

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048617-C-CTGCTGCTTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048617_42048618insTGCTGCTTCCG , CM000669.2:g.42048617_42048618insTGCTGCTTCCG	GRCh38
NC_000007.13:g.42088216_42088217insTGCTGCTTCCG , CM000669.1:g.42088216_42088217insTGCTGCTTCCG	GRCh37
NC_000007.12:g.42054741_42054742insTGCTGCTTCCG	NCBI36
NG_008434.1:g.193402_193403insCGGAAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.552_553insCGGAAGCAGCA MANE Select	ENSP00000379258.3:p.Ala185ArgfsTer?
ENST00000677288.1:c.375_376insCGGAAGCAGCA	ENSP00000503986.1:p.Ala126ArgfsTer?
ENST00000677605.1:c.552_553insCGGAAGCAGCA	ENSP00000503743.1:p.Ala185ArgfsTer?
ENST00000678429.1:c.552_553insCGGAAGCAGCA	ENSP00000502957.1:p.Ala185ArgfsTer?
ENST00000395925.7:c.552_553insCGGAAGCAGCA	ENSP00000379258.3:p.Ala185ArgfsTer?
ENST00000479210.1:n.529_530insCGGAAGCAGCA
NM_000168.5:c.552_553insCGGAAGCAGCA	NP_000159.3:p.Ala185ArgfsTer?
XM_005249703.1:c.552_553insCGGAAGCAGCA	XP_005249760.1:p.Ala185ArgfsTer?
XM_005249704.2:c.552_553insCGGAAGCAGCA	XP_005249761.1:p.Ala185ArgfsTer?
XM_011515272.1:c.552_553insCGGAAGCAGCA	XP_011513574.1:p.Ala185ArgfsTer?
XM_011515273.1:c.552_553insCGGAAGCAGCA	XP_011513575.1:p.Ala185ArgfsTer?
XM_011515274.1:c.375_376insCGGAAGCAGCA	XP_011513576.1:p.Ala126ArgfsTer?
XM_011515274.2:c.375_376insCGGAAGCAGCA	XP_011513576.1:p.Ala126ArgfsTer?
XM_017011997.1:c.549_550insCGGAAGCAGCA	XP_016867486.1:p.Ala184ArgfsTer?
NM_000168.6:c.552_553insCGGAAGCAGCA MANE Select	NP_000159.3:p.Ala185ArgfsTer?