Canonical Allele Identifier: CA10629012

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360170
• ClinVar RCV Id: RCV000298377 ; RCV000334670 ; RCV000404956
• dbSNP Id: rs144064690
• gnomAD v2: 7-42001569-TA-T
• gnomAD v3: 7-41961971-TA-T
• gnomAD v4: 7-41961971-TA-T
• COSMIC: COSN1349584
• MyVariant Identifiers: chr7:g.42001570del (hg19) ; chr7:g.41961972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961982del , CM000669.2:g.41961982del	GRCh38
NC_000007.13:g.42001580del , CM000669.1:g.42001580del	GRCh37
NC_000007.12:g.41968105del	NCBI36
NG_008434.1:g.280049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.*2358del MANE Select	ENSP00000379258.3:n.*2358del
ENST00000677288.1:c.*2358del	ENSP00000503986.1:n.*2358del
ENST00000677605.1:c.*2358del	ENSP00000503743.1:n.*2358del
ENST00000678429.1:c.*2358del	ENSP00000502957.1:n.*2358del
ENST00000395925.7:c.*2358del	ENSP00000379258.3:n.*2358del
NM_000168.5:c.*2358del	NP_000159.3:n.*2358del
XM_005249703.1:c.*2358del	XP_005249760.1:n.*2358del
XM_005249704.2:c.*2358del	XP_005249761.1:n.*2358del
XM_011515272.1:c.*2358del	XP_011513574.1:n.*2358del
XM_011515273.1:c.*2358del	XP_011513575.1:n.*2358del
XM_011515274.1:c.*2358del	XP_011513576.1:n.*2358del
NM_000168.6:c.*2358del MANE Select	NP_000159.3:n.*2358del