Canonical Allele Identifier: CA838573127

Gene: GLI3

Linked Data

• dbSNP Id: rs1258000419
• gnomAD v4: 7-42040351-G-GAGAGA
• MyVariant Identifiers: chr7:g.42079950_42079951insAGAGA (hg19) ; chr7:g.42040351_42040352insAGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040351_42040352insAGAGA , CM000669.2:g.42040351_42040352insAGAGA	GRCh38
NC_000007.13:g.42079950_42079951insAGAGA , CM000669.1:g.42079950_42079951insAGAGA	GRCh37
NC_000007.12:g.42046475_42046476insAGAGA	NCBI36
NG_008434.1:g.201668_201669insTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.827-113_827-112insTCTCT MANE Select	ENSP00000379258.3:n.827-113_827-112insTCTCT
ENST00000677288.1:c.650-113_650-112insTCTCT	ENSP00000503986.1:n.650-113_650-112insTCTCT
ENST00000677605.1:c.827-113_827-112insTCTCT	ENSP00000503743.1:n.827-113_827-112insTCTCT
ENST00000678429.1:c.827-113_827-112insTCTCT	ENSP00000502957.1:n.827-113_827-112insTCTCT
ENST00000395925.7:c.827-113_827-112insTCTCT	ENSP00000379258.3:n.827-113_827-112insTCTCT
ENST00000479210.1:n.804-113_804-112insTCTCT
NM_000168.5:c.827-113_827-112insTCTCT	NP_000159.3:n.827-113_827-112insTCTCT
XM_005249703.1:c.827-113_827-112insTCTCT	XP_005249760.1:n.827-113_827-112insTCTCT
XM_005249704.2:c.827-113_827-112insTCTCT	XP_005249761.1:n.827-113_827-112insTCTCT
XM_011515272.1:c.827-113_827-112insTCTCT	XP_011513574.1:n.827-113_827-112insTCTCT
XM_011515273.1:c.827-113_827-112insTCTCT	XP_011513575.1:n.827-113_827-112insTCTCT
XM_011515274.1:c.650-113_650-112insTCTCT	XP_011513576.1:n.650-113_650-112insTCTCT
XM_011515274.2:c.650-113_650-112insTCTCT	XP_011513576.1:n.650-113_650-112insTCTCT
XM_017011997.1:c.824-113_824-112insTCTCT	XP_016867486.1:n.824-113_824-112insTCTCT
NM_000168.6:c.827-113_827-112insTCTCT MANE Select	NP_000159.3:n.827-113_827-112insTCTCT