Canonical Allele Identifier: CA2682510252

Gene: GLI3

Linked Data

• gnomAD v4: 7-41966449-C-CGGCGGCTGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966450_41966461dup , CM000669.2:g.41966450_41966461dup	GRCh38
NC_000007.13:g.42006048_42006059dup , CM000669.1:g.42006048_42006059dup	GRCh37
NC_000007.12:g.41972573_41972584dup	NCBI36
NG_008434.1:g.275560_275571dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2612_2623dup MANE Select	ENSP00000379258.3:p.Arg874_Arg875insLeuSe...
ENST00000677288.1:c.2438_2449dup	ENSP00000503986.1:p.Arg816_Arg817insLeuSe...
ENST00000677605.1:c.2612_2623dup	ENSP00000503743.1:p.Arg874_Arg875insLeuSe...
ENST00000678429.1:c.2612_2623dup	ENSP00000502957.1:p.Arg874_Arg875insLeuSe...
ENST00000395925.7:c.2612_2623dup	ENSP00000379258.3:p.Arg874_Arg875insLeuSe...
ENST00000479210.1:n.2589_2600dup
NM_000168.5:c.2612_2623dup	NP_000159.3:p.Arg874_Arg875insLeuSerSerAr...
XM_005249703.1:c.2612_2623dup	XP_005249760.1:p.Arg874_Arg875insLeuSerSe...
XM_005249704.2:c.2612_2623dup	XP_005249761.1:p.Arg874_Arg875insLeuSerSe...
XM_011515272.1:c.2612_2623dup	XP_011513574.1:p.Arg874_Arg875insLeuSerSe...
XM_011515273.1:c.2612_2623dup	XP_011513575.1:p.Arg874_Arg875insLeuSerSe...
XM_011515274.1:c.2435_2446dup	XP_011513576.1:p.Arg815_Arg816insLeuSerSe...
XM_011515274.2:c.2435_2446dup	XP_011513576.1:p.Arg815_Arg816insLeuSerSe...
XM_017011997.1:c.2609_2620dup	XP_016867486.1:p.Arg873_Arg874insLeuSerSe...
NM_000168.6:c.2612_2623dup MANE Select	NP_000159.3:p.Arg874_Arg875insLeuSerSerAr...