Canonical Allele Identifier: CA4230655

Gene: GLI3

Linked Data

• dbSNP Id: rs748850322
• ExAC: 7:42007383 GGGT / G
• gnomAD v2: 7-42007383-GGGT-G
• gnomAD v3: 7-41967785-GGGT-G
• gnomAD v4: 7-41967785-GGGT-G
• COSMIC: COSM1740991
• MyVariant Identifiers: chr7:g.42007384_42007386del (hg19) ; chr7:g.41967786_41967788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967786_41967788del , CM000669.2:g.41967786_41967788del	GRCh38
NC_000007.13:g.42007384_42007386del , CM000669.1:g.42007384_42007386del	GRCh37
NC_000007.12:g.41973909_41973911del	NCBI36
NG_008434.1:g.274233_274235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2239_2241del MANE Select	ENSP00000379258.3:p.Thr747del
ENST00000677288.1:c.2065_2067del	ENSP00000503986.1:p.Thr689del
ENST00000677605.1:c.2239_2241del	ENSP00000503743.1:p.Thr747del
ENST00000678429.1:c.2239_2241del	ENSP00000502957.1:p.Thr747del
ENST00000395925.7:c.2239_2241del	ENSP00000379258.3:p.Thr747del
ENST00000479210.1:n.2216_2218del
NM_000168.5:c.2239_2241del	NP_000159.3:p.Thr747del
XM_005249703.1:c.2239_2241del	XP_005249760.1:p.Thr747del
XM_005249704.2:c.2239_2241del	XP_005249761.1:p.Thr747del
XM_011515272.1:c.2239_2241del	XP_011513574.1:p.Thr747del
XM_011515273.1:c.2239_2241del	XP_011513575.1:p.Thr747del
XM_011515274.1:c.2062_2064del	XP_011513576.1:p.Thr688del
XM_011515274.2:c.2062_2064del	XP_011513576.1:p.Thr688del
XM_017011997.1:c.2236_2238del	XP_016867486.1:p.Thr746del
NM_000168.6:c.2239_2241del MANE Select	NP_000159.3:p.Thr747del