Canonical Allele Identifier: CA1702660899

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1042763
• ClinVar RCV Id: RCV001346772
• dbSNP Id: rs1787150394

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965710_41965711delinsCG , CM000669.2:g.41965710_41965711delinsCG	GRCh38
NC_000007.13:g.42005308_42005309delinsCG , CM000669.1:g.42005308_42005309delinsCG	GRCh37
NC_000007.12:g.41971833_41971834delinsCG	NCBI36
NG_008434.1:g.276310_276311delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3362_3363delinsCG MANE Select	ENSP00000379258.3:p.Lys1121Thr
ENST00000677288.1:c.3188_3189delinsCG	ENSP00000503986.1:p.Lys1063Thr
ENST00000677605.1:c.3362_3363delinsCG	ENSP00000503743.1:p.Lys1121Thr
ENST00000678429.1:c.3362_3363delinsCG	ENSP00000502957.1:p.Lys1121Thr
ENST00000395925.7:c.3362_3363delinsCG	ENSP00000379258.3:p.Lys1121Thr
ENST00000479210.1:n.3339_3340delinsCG
NM_000168.5:c.3362_3363delinsCG	NP_000159.3:p.Lys1121Thr
XM_005249703.1:c.3362_3363delinsCG	XP_005249760.1:p.Lys1121Thr
XM_005249704.2:c.3362_3363delinsCG	XP_005249761.1:p.Lys1121Thr
XM_011515272.1:c.3362_3363delinsCG	XP_011513574.1:p.Lys1121Thr
XM_011515273.1:c.3362_3363delinsCG	XP_011513575.1:p.Lys1121Thr
XM_011515274.1:c.3185_3186delinsCG	XP_011513576.1:p.Lys1062Thr
XM_011515274.2:c.3185_3186delinsCG	XP_011513576.1:p.Lys1062Thr
XM_017011997.1:c.3359_3360delinsCG	XP_016867486.1:p.Lys1120Thr
NM_000168.6:c.3362_3363delinsCG MANE Select	NP_000159.3:p.Lys1121Thr