Canonical Allele Identifier: CA838570674

Gene: GLI3

Linked Data

• dbSNP Id: rs1230369593
• gnomAD v3: 7-41961712-GGTGA-G
• gnomAD v4: 7-41961712-GGTGA-G
• MyVariant Identifiers: chr7:g.42001311_42001314del (hg19) ; chr7:g.41961713_41961716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961715_41961718del , CM000669.2:g.41961715_41961718del	GRCh38
NC_000007.13:g.42001313_42001316del , CM000669.1:g.42001313_42001316del	GRCh37
NC_000007.12:g.41967838_41967841del	NCBI36
NG_008434.1:g.280305_280308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*2614_*2617del MANE Select	ENSP00000379258.3:n.*2614_*2617del
ENST00000677288.1:c.*2614_*2617del	ENSP00000503986.1:n.*2614_*2617del
ENST00000677605.1:c.*2614_*2617del	ENSP00000503743.1:n.*2614_*2617del
ENST00000678429.1:c.*2614_*2617del	ENSP00000502957.1:n.*2614_*2617del
ENST00000395925.7:c.*2614_*2617del	ENSP00000379258.3:n.*2614_*2617del
NM_000168.5:c.*2614_*2617del	NP_000159.3:n.*2614_*2617del
XM_005249703.1:c.*2614_*2617del	XP_005249760.1:n.*2614_*2617del
XM_005249704.2:c.*2614_*2617del	XP_005249761.1:n.*2614_*2617del
XM_011515272.1:c.*2614_*2617del	XP_011513574.1:n.*2614_*2617del
XM_011515273.1:c.*2614_*2617del	XP_011513575.1:n.*2614_*2617del
XM_011515274.1:c.*2614_*2617del	XP_011513576.1:n.*2614_*2617del
NM_000168.6:c.*2614_*2617del MANE Select	NP_000159.3:n.*2614_*2617del