Canonical Allele Identifier: CA574228268

Gene: GLI3

Linked Data

• dbSNP Id: rs1469536968
• gnomAD v2: 7-42187731-C-CGT
• gnomAD v3: 7-42148132-C-CGT
• gnomAD v4: 7-42148132-C-CGT
• MyVariant Identifiers: chr7:g.42187731_42187732insGT (hg19) ; chr7:g.42148132_42148133insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148133_42148134insTG , CM000669.2:g.42148133_42148134insTG	GRCh38
NC_000007.13:g.42187732_42187733insTG , CM000669.1:g.42187732_42187733insTG	GRCh37
NC_000007.12:g.42154257_42154258insTG	NCBI36
NG_008434.1:g.93887_93888insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.367+93_367+94insAC MANE Select	ENSP00000379258.3:n.367+93_367+94insAC
ENST00000642432.1:c.190+93_190+94insAC	ENSP00000495498.1:n.190+93_190+94insAC
ENST00000643264.1:c.190+93_190+94insAC	ENSP00000495207.1:n.190+93_190+94insAC
ENST00000647255.1:c.190+93_190+94insAC	ENSP00000495745.1:n.190+93_190+94insAC
ENST00000677288.1:c.190+93_190+94insAC	ENSP00000503986.1:n.190+93_190+94insAC
ENST00000677605.1:c.367+93_367+94insAC	ENSP00000503743.1:n.367+93_367+94insAC
ENST00000678429.1:c.367+93_367+94insAC	ENSP00000502957.1:n.367+93_367+94insAC
ENST00000395925.7:c.367+93_367+94insAC	ENSP00000379258.3:n.367+93_367+94insAC
ENST00000448703.5:c.367+93_367+94insAC	ENSP00000406135.1:n.367+93_367+94insAC
ENST00000479210.1:n.344+93_344+94insAC
NM_000168.5:c.367+93_367+94insAC	NP_000159.3:n.367+93_367+94insAC
XM_005249703.1:c.367+93_367+94insAC	XP_005249760.1:n.367+93_367+94insAC
XM_005249704.2:c.367+93_367+94insAC	XP_005249761.1:n.367+93_367+94insAC
XM_011515272.1:c.367+93_367+94insAC	XP_011513574.1:n.367+93_367+94insAC
XM_011515273.1:c.367+93_367+94insAC	XP_011513575.1:n.367+93_367+94insAC
XM_011515274.1:c.190+93_190+94insAC	XP_011513576.1:n.190+93_190+94insAC
XM_011515274.2:c.190+93_190+94insAC	XP_011513576.1:n.190+93_190+94insAC
XM_017011997.1:c.364+93_364+94insAC	XP_016867486.1:n.364+93_364+94insAC
NM_000168.6:c.367+93_367+94insAC MANE Select	NP_000159.3:n.367+93_367+94insAC