Canonical Allele Identifier: CA573908185

Gene: GLI3

Linked Data

• dbSNP Id: rs1297125618
• gnomAD v2: 7-42079840-TG-T
• MyVariant Identifiers: chr7:g.42079841del (hg19) ; chr7:g.42040242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040242del , CM000669.2:g.42040242del	GRCh38
NC_000007.13:g.42079841del , CM000669.1:g.42079841del	GRCh37
NC_000007.12:g.42046366del	NCBI36
NG_008434.1:g.201778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.827-3del MANE Select	ENSP00000379258.3:n.827-3del
ENST00000677288.1:c.650-3del	ENSP00000503986.1:n.650-3del
ENST00000677605.1:c.827-3del	ENSP00000503743.1:n.827-3del
ENST00000678429.1:c.827-3del	ENSP00000502957.1:n.827-3del
ENST00000395925.7:c.827-3del	ENSP00000379258.3:n.827-3del
ENST00000479210.1:n.804-3del
NM_000168.5:c.827-3del	NP_000159.3:n.827-3del
XM_005249703.1:c.827-3del	XP_005249760.1:n.827-3del
XM_005249704.2:c.827-3del	XP_005249761.1:n.827-3del
XM_011515272.1:c.827-3del	XP_011513574.1:n.827-3del
XM_011515273.1:c.827-3del	XP_011513575.1:n.827-3del
XM_011515274.1:c.650-3del	XP_011513576.1:n.650-3del
XM_011515274.2:c.650-3del	XP_011513576.1:n.650-3del
XM_017011997.1:c.824-3del	XP_016867486.1:n.824-3del
NM_000168.6:c.827-3del MANE Select	NP_000159.3:n.827-3del