Canonical Allele Identifier: CA838609410

Gene: GLI3

Linked Data

• dbSNP Id: rs1474076897
• gnomAD v3: 7-42148029-ATC-A
• gnomAD v4: 7-42148029-ATC-A
• MyVariant Identifiers: chr7:g.42187629_42187630del (hg19) ; chr7:g.42148030_42148031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148037_42148038del , CM000669.2:g.42148037_42148038del	GRCh38
NC_000007.13:g.42187636_42187637del , CM000669.1:g.42187636_42187637del	GRCh37
NC_000007.12:g.42154161_42154162del	NCBI36
NG_008434.1:g.93989_93990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.367+195_367+196del MANE Select	ENSP00000379258.3:n.367+195_367+196del
ENST00000642432.1:c.190+195_190+196del	ENSP00000495498.1:n.190+195_190+196del
ENST00000643264.1:c.190+195_190+196del	ENSP00000495207.1:n.190+195_190+196del
ENST00000647255.1:c.190+195_190+196del	ENSP00000495745.1:n.190+195_190+196del
ENST00000677288.1:c.190+195_190+196del	ENSP00000503986.1:n.190+195_190+196del
ENST00000677605.1:c.367+195_367+196del	ENSP00000503743.1:n.367+195_367+196del
ENST00000678429.1:c.367+195_367+196del	ENSP00000502957.1:n.367+195_367+196del
ENST00000395925.7:c.367+195_367+196del	ENSP00000379258.3:n.367+195_367+196del
ENST00000448703.5:c.367+195_367+196del	ENSP00000406135.1:n.367+195_367+196del
ENST00000479210.1:n.344+195_344+196del
NM_000168.5:c.367+195_367+196del	NP_000159.3:n.367+195_367+196del
XM_005249703.1:c.367+195_367+196del	XP_005249760.1:n.367+195_367+196del
XM_005249704.2:c.367+195_367+196del	XP_005249761.1:n.367+195_367+196del
XM_011515272.1:c.367+195_367+196del	XP_011513574.1:n.367+195_367+196del
XM_011515273.1:c.367+195_367+196del	XP_011513575.1:n.367+195_367+196del
XM_011515274.1:c.190+195_190+196del	XP_011513576.1:n.190+195_190+196del
XM_011515274.2:c.190+195_190+196del	XP_011513576.1:n.190+195_190+196del
XM_017011997.1:c.364+195_364+196del	XP_016867486.1:n.364+195_364+196del
NM_000168.6:c.367+195_367+196del MANE Select	NP_000159.3:n.367+195_367+196del