Canonical Allele Identifier: CA10605864

Gene: GLI3

Linked Data

• ClinVar Variation Id: 287768
• ClinVar RCV Id: RCV000332595 ; RCV001651320 ; RCV000544497 ; RCV002502142
• dbSNP Id: rs886043721
• MyVariant Identifiers: chr7:g.42005587_42005588delinsAA (hg19) ; chr7:g.41965989_41965990delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965989_41965990delinsAA , CM000669.2:g.41965989_41965990delinsAA	GRCh38
NC_000007.13:g.42005587_42005588delinsAA , CM000669.1:g.42005587_42005588delinsAA	GRCh37
NC_000007.12:g.41972112_41972113delinsAA	NCBI36
NG_008434.1:g.276031_276032delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3083_3084delinsTT MANE Select	ENSP00000379258.3:p.Ser1028Ile
ENST00000677288.1:c.2909_2910delinsTT	ENSP00000503986.1:p.Ser970Ile
ENST00000677605.1:c.3083_3084delinsTT	ENSP00000503743.1:p.Ser1028Ile
ENST00000678429.1:c.3083_3084delinsTT	ENSP00000502957.1:p.Ser1028Ile
ENST00000395925.7:c.3083_3084delinsTT	ENSP00000379258.3:p.Ser1028Ile
ENST00000479210.1:n.3060_3061delinsTT
NM_000168.5:c.3083_3084delinsTT	NP_000159.3:p.Ser1028Ile
XM_005249703.1:c.3083_3084delinsTT	XP_005249760.1:p.Ser1028Ile
XM_005249704.2:c.3083_3084delinsTT	XP_005249761.1:p.Ser1028Ile
XM_011515272.1:c.3083_3084delinsTT	XP_011513574.1:p.Ser1028Ile
XM_011515273.1:c.3083_3084delinsTT	XP_011513575.1:p.Ser1028Ile
XM_011515274.1:c.2906_2907delinsTT	XP_011513576.1:p.Ser969Ile
XM_011515274.2:c.2906_2907delinsTT	XP_011513576.1:p.Ser969Ile
XM_017011997.1:c.3080_3081delinsTT	XP_016867486.1:p.Ser1027Ile
NM_000168.6:c.3083_3084delinsTT MANE Select	NP_000159.3:p.Ser1028Ile