Canonical Allele Identifier: CA157278079

Gene: GLI3

Linked Data

• ClinVar Variation Id: 802306
• ClinVar RCV Id: RCV000987865 ; RCV001712839
• dbSNP Id: rs34148485
• gnomAD v2: 7-42187734-GCA-G
• gnomAD v3: 7-42148135-GCA-G
• gnomAD v4: 7-42148135-GCA-G
• MyVariant Identifiers: chr7:g.42187741_42187742del (hg19) ; chr7:g.42187735_42187736del (hg19) ; chr7:g.42148142_42148143del (hg38) ; chr7:g.42148136_42148137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148176_42148177del , CM000669.2:g.42148176_42148177del	GRCh38
NC_000007.13:g.42187775_42187776del , CM000669.1:g.42187775_42187776del	GRCh37
NC_000007.12:g.42154300_42154301del	NCBI36
NG_008434.1:g.93883_93884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.367+89_367+90del MANE Select	ENSP00000379258.3:n.367+89_367+90del
ENST00000642432.1:c.190+89_190+90del	ENSP00000495498.1:n.190+89_190+90del
ENST00000643264.1:c.190+89_190+90del	ENSP00000495207.1:n.190+89_190+90del
ENST00000647255.1:c.190+89_190+90del	ENSP00000495745.1:n.190+89_190+90del
ENST00000677288.1:c.190+89_190+90del	ENSP00000503986.1:n.190+89_190+90del
ENST00000677605.1:c.367+89_367+90del	ENSP00000503743.1:n.367+89_367+90del
ENST00000678429.1:c.367+89_367+90del	ENSP00000502957.1:n.367+89_367+90del
ENST00000395925.7:c.367+89_367+90del	ENSP00000379258.3:n.367+89_367+90del
ENST00000448703.5:c.367+89_367+90del	ENSP00000406135.1:n.367+89_367+90del
ENST00000479210.1:n.344+89_344+90del
NM_000168.5:c.367+89_367+90del	NP_000159.3:n.367+89_367+90del
XM_005249703.1:c.367+89_367+90del	XP_005249760.1:n.367+89_367+90del
XM_005249704.2:c.367+89_367+90del	XP_005249761.1:n.367+89_367+90del
XM_011515272.1:c.367+89_367+90del	XP_011513574.1:n.367+89_367+90del
XM_011515273.1:c.367+89_367+90del	XP_011513575.1:n.367+89_367+90del
XM_011515274.1:c.190+89_190+90del	XP_011513576.1:n.190+89_190+90del
XM_011515274.2:c.190+89_190+90del	XP_011513576.1:n.190+89_190+90del
XM_017011997.1:c.364+89_364+90del	XP_016867486.1:n.364+89_364+90del
NM_000168.6:c.367+89_367+90del MANE Select	NP_000159.3:n.367+89_367+90del