Canonical Allele Identifier: CA342934
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840761
MyVariant Identifiers: chr7:g.42006051del (hg19) chr7:g.41966453del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966454del , CM000669.2:g.41966454del GRCh38
NC_000007.13:g.42006052del , CM000669.1:g.42006052del GRCh37
NC_000007.12:g.41972577del NCBI36
NG_008434.1:g.275568del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2620del MANE Select ENSP00000379258.3:p.Arg874AlafsTer16
ENST00000677288.1:c.2446del ENSP00000503986.1:p.Arg816AlafsTer16
ENST00000677605.1:c.2620del ENSP00000503743.1:p.Arg874AlafsTer16
ENST00000678429.1:c.2620del ENSP00000502957.1:p.Arg874AlafsTer16
ENST00000395925.7:c.2620del ENSP00000379258.3:p.Arg874AlafsTer16
ENST00000479210.1:n.2597del
NM_000168.5:c.2620del NP_000159.3:p.Arg874AlafsTer16
XM_005249703.1:c.2620del XP_005249760.1:p.Arg874AlafsTer16
XM_005249704.2:c.2620del XP_005249761.1:p.Arg874AlafsTer16
XM_011515272.1:c.2620del XP_011513574.1:p.Arg874AlafsTer16
XM_011515273.1:c.2620del XP_011513575.1:p.Arg874AlafsTer16
XM_011515274.1:c.2443del XP_011513576.1:p.Arg815AlafsTer16
XM_011515274.2:c.2443del XP_011513576.1:p.Arg815AlafsTer16
XM_017011997.1:c.2617del XP_016867486.1:p.Arg873AlafsTer16
NM_000168.6:c.2620del MANE Select NP_000159.3:p.Arg874AlafsTer16
Search 100 bp 5'
Search 100 bp 3'