Canonical Allele Identifier: CA573768390

Gene: GLI3

Linked Data

• dbSNP Id: rs1183781240
• gnomAD v2: 7-42003806-CAGTT-C
• gnomAD v3: 7-41964208-CAGTT-C
• gnomAD v4: 7-41964208-CAGTT-C
• MyVariant Identifiers: chr7:g.42003807_42003810del (hg19) ; chr7:g.41964209_41964212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964211_41964214del , CM000669.2:g.41964211_41964214del	GRCh38
NC_000007.13:g.42003809_42003812del , CM000669.1:g.42003809_42003812del	GRCh37
NC_000007.12:g.41970334_41970337del	NCBI36
NG_008434.1:g.277809_277812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.*118_*121del MANE Select	ENSP00000379258.3:n.*118_*121del
ENST00000677288.1:c.*118_*121del	ENSP00000503986.1:n.*118_*121del
ENST00000677605.1:c.*118_*121del	ENSP00000503743.1:n.*118_*121del
ENST00000678429.1:c.*118_*121del	ENSP00000502957.1:n.*118_*121del
ENST00000395925.7:c.*118_*121del	ENSP00000379258.3:n.*118_*121del
ENST00000479210.1:n.4838_4841del
NM_000168.5:c.*118_*121del	NP_000159.3:n.*118_*121del
XM_005249703.1:c.*118_*121del	XP_005249760.1:n.*118_*121del
XM_005249704.2:c.*118_*121del	XP_005249761.1:n.*118_*121del
XM_011515272.1:c.*118_*121del	XP_011513574.1:n.*118_*121del
XM_011515273.1:c.*118_*121del	XP_011513575.1:n.*118_*121del
XM_011515274.1:c.*118_*121del	XP_011513576.1:n.*118_*121del
NM_000168.6:c.*118_*121del MANE Select	NP_000159.3:n.*118_*121del