Canonical Allele Identifier: CA1702661308

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2947731
• ClinVar RCV Id: RCV003804361
• dbSNP Id: rs1787186773
• gnomAD v4: 7-41966444-T-TGGAGCGGCGGCTGGAGAAGCAGGGCGAGATCCCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966458_41966493dup , CM000669.2:g.41966458_41966493dup	GRCh38
NC_000007.13:g.42006056_42006091dup , CM000669.1:g.42006056_42006091dup	GRCh37
NC_000007.12:g.41972581_41972616dup	NCBI36
NG_008434.1:g.275541_275576dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2593_2628dup MANE Select	ENSP00000379258.3:p.Ser876_Ser877insSerGl...
ENST00000677288.1:c.2419_2454dup	ENSP00000503986.1:p.Ser818_Ser819insSerGl...
ENST00000677605.1:c.2593_2628dup	ENSP00000503743.1:p.Ser876_Ser877insSerGl...
ENST00000678429.1:c.2593_2628dup	ENSP00000502957.1:p.Ser876_Ser877insSerGl...
ENST00000395925.7:c.2593_2628dup	ENSP00000379258.3:p.Ser876_Ser877insSerGl...
ENST00000479210.1:n.2570_2605dup
NM_000168.5:c.2593_2628dup	NP_000159.3:p.Ser876_Ser877insSerGlyIleSe...
XM_005249703.1:c.2593_2628dup	XP_005249760.1:p.Ser876_Ser877insSerGlyIl...
XM_005249704.2:c.2593_2628dup	XP_005249761.1:p.Ser876_Ser877insSerGlyIl...
XM_011515272.1:c.2593_2628dup	XP_011513574.1:p.Ser876_Ser877insSerGlyIl...
XM_011515273.1:c.2593_2628dup	XP_011513575.1:p.Ser876_Ser877insSerGlyIl...
XM_011515274.1:c.2416_2451dup	XP_011513576.1:p.Ser817_Ser818insSerGlyIl...
XM_011515274.2:c.2416_2451dup	XP_011513576.1:p.Ser817_Ser818insSerGlyIl...
XM_017011997.1:c.2590_2625dup	XP_016867486.1:p.Ser875_Ser876insSerGlyIl...
NM_000168.6:c.2593_2628dup MANE Select	NP_000159.3:p.Ser876_Ser877insSerGlyIleSe...