Canonical Allele Identifier: CA2499218885

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1075151
• ClinVar RCV Id: RCV001388671
• dbSNP Id: rs2128705693

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965708_41965709del , CM000669.2:g.41965708_41965709del	GRCh38
NC_000007.13:g.42005306_42005307del , CM000669.1:g.42005306_42005307del	GRCh37
NC_000007.12:g.41971831_41971832del	NCBI36
NG_008434.1:g.276313_276314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3365_3366del MANE Select	ENSP00000379258.3:p.Val1122AlafsTer6
ENST00000677288.1:c.3191_3192del	ENSP00000503986.1:p.Val1064AlafsTer6
ENST00000677605.1:c.3365_3366del	ENSP00000503743.1:p.Val1122AlafsTer6
ENST00000678429.1:c.3365_3366del	ENSP00000502957.1:p.Val1122AlafsTer6
ENST00000395925.7:c.3365_3366del	ENSP00000379258.3:p.Val1122AlafsTer6
ENST00000479210.1:n.3342_3343del
NM_000168.5:c.3365_3366del	NP_000159.3:p.Val1122AlafsTer6
XM_005249703.1:c.3365_3366del	XP_005249760.1:p.Val1122AlafsTer6
XM_005249704.2:c.3365_3366del	XP_005249761.1:p.Val1122AlafsTer6
XM_011515272.1:c.3365_3366del	XP_011513574.1:p.Val1122AlafsTer6
XM_011515273.1:c.3365_3366del	XP_011513575.1:p.Val1122AlafsTer6
XM_011515274.1:c.3188_3189del	XP_011513576.1:p.Val1063AlafsTer6
XM_011515274.2:c.3188_3189del	XP_011513576.1:p.Val1063AlafsTer6
XM_017011997.1:c.3362_3363del	XP_016867486.1:p.Val1121AlafsTer6
NM_000168.6:c.3365_3366del MANE Select	NP_000159.3:p.Val1122AlafsTer6