Canonical Allele Identifier: CA838639257

Gene: GLI3

Linked Data

• dbSNP Id: rs1465886806
• gnomAD v3: 7-42236987-TGTC-T
• gnomAD v4: 7-42236987-TGTC-T
• MyVariant Identifiers: chr7:g.42276587_42276589del (hg19) ; chr7:g.42236988_42236990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42236988_42236990del , CM000669.2:g.42236988_42236990del	GRCh38
NC_000007.13:g.42276587_42276589del , CM000669.1:g.42276587_42276589del	GRCh37
NC_000007.12:g.42243112_42243114del	NCBI36
NG_008434.1:g.5030_5032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.-62_-60del MANE Select	ENSP00000379258.3:n.-62_-60del
ENST00000428534.2:c.-43+794_-43+796del	ENSP00000503957.1:n.-43+794_-43+796del
ENST00000677605.1:c.-43+509_-43+511del	ENSP00000503743.1:n.-43+509_-43+511del
ENST00000677990.1:n.220_222del
ENST00000678978.1:c.-42-13695_-42-13693del	ENSP00000503352.1:n.-42-13695_-42-13693de...
ENST00000395925.7:c.-62_-60del	ENSP00000379258.3:n.-62_-60del
ENST00000428534.1:n.87+794_87+796del
ENST00000437480.1:c.-62_-60del	ENSP00000407963.1:n.-62_-60del
NM_000168.5:c.-62_-60del	NP_000159.3:n.-62_-60del
XM_005249703.1:c.-43+794_-43+796del	XP_005249760.1:n.-43+794_-43+796del
XM_005249704.2:c.-43+509_-43+511del	XP_005249761.1:n.-43+509_-43+511del
XM_011515273.1:c.-42-13695_-42-13693del	XP_011513575.1:n.-42-13695_-42-13693del
NM_000168.6:c.-62_-60del MANE Select	NP_000159.3:n.-62_-60del