Canonical Allele Identifier: CA342931
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840759
MyVariant Identifiers: chr7:g.42006188del (hg19) chr7:g.41966590del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966592del , CM000669.2:g.41966592del GRCh38
NC_000007.13:g.42006190del , CM000669.1:g.42006190del GRCh37
NC_000007.12:g.41972715del NCBI36
NG_008434.1:g.275431del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2483del MANE Select ENSP00000379258.3:p.Pro828ArgfsTer14
ENST00000677288.1:c.2309del ENSP00000503986.1:p.Pro770ArgfsTer14
ENST00000677605.1:c.2483del ENSP00000503743.1:p.Pro828ArgfsTer14
ENST00000678429.1:c.2483del ENSP00000502957.1:p.Pro828ArgfsTer14
ENST00000395925.7:c.2483del ENSP00000379258.3:p.Pro828ArgfsTer14
ENST00000479210.1:n.2460del
NM_000168.5:c.2483del NP_000159.3:p.Pro828ArgfsTer14
XM_005249703.1:c.2483del XP_005249760.1:p.Pro828ArgfsTer14
XM_005249704.2:c.2483del XP_005249761.1:p.Pro828ArgfsTer14
XM_011515272.1:c.2483del XP_011513574.1:p.Pro828ArgfsTer14
XM_011515273.1:c.2483del XP_011513575.1:p.Pro828ArgfsTer14
XM_011515274.1:c.2306del XP_011513576.1:p.Pro769ArgfsTer14
XM_011515274.2:c.2306del XP_011513576.1:p.Pro769ArgfsTer14
XM_017011997.1:c.2480del XP_016867486.1:p.Pro827ArgfsTer14
NM_000168.6:c.2483del MANE Select NP_000159.3:p.Pro828ArgfsTer14
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