Canonical Allele Identifier: CA16618463
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419159
ClinVar RCV Id: RCV000479622
dbSNP Id: rs1064793685
MyVariant Identifiers: chr7:g.42018267del (hg19) chr7:g.41978668del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41978670del , CM000669.2:g.41978670del GRCh38
NC_000007.13:g.42018269del , CM000669.1:g.42018269del GRCh37
NC_000007.12:g.41984794del NCBI36
NG_008434.1:g.263352del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.1578del MANE Select ENSP00000379258.3:p.Phe527SerfsTer8
ENST00000677288.1:c.1404del ENSP00000503986.1:p.Phe469SerfsTer8
ENST00000677605.1:c.1578del ENSP00000503743.1:p.Phe527SerfsTer8
ENST00000678429.1:c.1578del ENSP00000502957.1:p.Phe527SerfsTer8
ENST00000395925.7:c.1578del ENSP00000379258.3:p.Phe527SerfsTer8
ENST00000479210.1:n.1555del
NM_000168.5:c.1578del NP_000159.3:p.Phe527SerfsTer8
XM_005249703.1:c.1578del XP_005249760.1:p.Phe527SerfsTer8
XM_005249704.2:c.1578del XP_005249761.1:p.Phe527SerfsTer8
XM_011515272.1:c.1578del XP_011513574.1:p.Phe527SerfsTer8
XM_011515273.1:c.1578del XP_011513575.1:p.Phe527SerfsTer8
XM_011515274.1:c.1401del XP_011513576.1:p.Phe468SerfsTer8
XM_011515274.2:c.1401del XP_011513576.1:p.Phe468SerfsTer8
XM_017011997.1:c.1575del XP_016867486.1:p.Phe526SerfsTer8
NM_000168.6:c.1578del MANE Select NP_000159.3:p.Phe527SerfsTer8
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