Canonical Allele Identifier: CA573904735

Gene: GLI3

Linked Data

• dbSNP Id: rs1199079864
• gnomAD v2: 7-42005440-G-GGAC
• gnomAD v4: 7-41965842-G-GGAC
• MyVariant Identifiers: chr7:g.42005440_42005441insGAC (hg19) ; chr7:g.41965842_41965843insGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965843_41965845dup , CM000669.2:g.41965843_41965845dup	GRCh38
NC_000007.13:g.42005441_42005443dup , CM000669.1:g.42005441_42005443dup	GRCh37
NC_000007.12:g.41971966_41971968dup	NCBI36
NG_008434.1:g.276176_276178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3228_3230dup MANE Select	ENSP00000379258.3:p.Ser1077_Leu1078insSer
ENST00000677288.1:c.3054_3056dup	ENSP00000503986.1:p.Ser1019_Leu1020insSer
ENST00000677605.1:c.3228_3230dup	ENSP00000503743.1:p.Ser1077_Leu1078insSer
ENST00000678429.1:c.3228_3230dup	ENSP00000502957.1:p.Ser1077_Leu1078insSer
ENST00000395925.7:c.3228_3230dup	ENSP00000379258.3:p.Ser1077_Leu1078insSer
ENST00000479210.1:n.3205_3207dup
NM_000168.5:c.3228_3230dup	NP_000159.3:p.Ser1077_Leu1078insSer
XM_005249703.1:c.3228_3230dup	XP_005249760.1:p.Ser1077_Leu1078insSer
XM_005249704.2:c.3228_3230dup	XP_005249761.1:p.Ser1077_Leu1078insSer
XM_011515272.1:c.3228_3230dup	XP_011513574.1:p.Ser1077_Leu1078insSer
XM_011515273.1:c.3228_3230dup	XP_011513575.1:p.Ser1077_Leu1078insSer
XM_011515274.1:c.3051_3053dup	XP_011513576.1:p.Ser1018_Leu1019insSer
XM_011515274.2:c.3051_3053dup	XP_011513576.1:p.Ser1018_Leu1019insSer
XM_017011997.1:c.3225_3227dup	XP_016867486.1:p.Ser1076_Leu1077insSer
NM_000168.6:c.3228_3230dup MANE Select	NP_000159.3:p.Ser1077_Leu1078insSer