Canonical Allele Identifier: CA573768215

Gene: GLI3

Linked Data

• dbSNP Id: rs1317747305
• gnomAD v2: 7-42002288-TCTTAA-T
• gnomAD v3: 7-41962690-TCTTAA-T
• gnomAD v4: 7-41962690-TCTTAA-T
• MyVariant Identifiers: chr7:g.42002289_42002293del (hg19) ; chr7:g.41962691_41962695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41962692_41962696del , CM000669.2:g.41962692_41962696del	GRCh38
NC_000007.13:g.42002290_42002294del , CM000669.1:g.42002290_42002294del	GRCh37
NC_000007.12:g.41968815_41968819del	NCBI36
NG_008434.1:g.279326_279330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*1635_*1639del MANE Select	ENSP00000379258.3:n.*1635_*1639del
ENST00000677288.1:c.*1635_*1639del	ENSP00000503986.1:n.*1635_*1639del
ENST00000677605.1:c.*1635_*1639del	ENSP00000503743.1:n.*1635_*1639del
ENST00000678429.1:c.*1635_*1639del	ENSP00000502957.1:n.*1635_*1639del
ENST00000395925.7:c.*1635_*1639del	ENSP00000379258.3:n.*1635_*1639del
NM_000168.5:c.*1635_*1639del	NP_000159.3:n.*1635_*1639del
XM_005249703.1:c.*1635_*1639del	XP_005249760.1:n.*1635_*1639del
XM_005249704.2:c.*1635_*1639del	XP_005249761.1:n.*1635_*1639del
XM_011515272.1:c.*1635_*1639del	XP_011513574.1:n.*1635_*1639del
XM_011515273.1:c.*1635_*1639del	XP_011513575.1:n.*1635_*1639del
XM_011515274.1:c.*1635_*1639del	XP_011513576.1:n.*1635_*1639del
NM_000168.6:c.*1635_*1639del MANE Select	NP_000159.3:n.*1635_*1639del