Canonical Allele Identifier: CA342935
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840762
MyVariant Identifiers: chr7:g.42006043del (hg19) chr7:g.41966445del (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966446del , CM000669.2:g.41966446del GRCh38
NC_000007.13:g.42006044del , CM000669.1:g.42006044del GRCh37
NC_000007.12:g.41972569del NCBI36
NG_008434.1:g.275576del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2628del MANE Select ENSP00000379258.3:p.Ser877AlafsTer13
ENST00000677288.1:c.2454del ENSP00000503986.1:p.Ser819AlafsTer13
ENST00000677605.1:c.2628del ENSP00000503743.1:p.Ser877AlafsTer13
ENST00000678429.1:c.2628del ENSP00000502957.1:p.Ser877AlafsTer13
ENST00000395925.7:c.2628del ENSP00000379258.3:p.Ser877AlafsTer13
ENST00000479210.1:n.2605del
NM_000168.5:c.2628del NP_000159.3:p.Ser877AlafsTer13
XM_005249703.1:c.2628del XP_005249760.1:p.Ser877AlafsTer13
XM_005249704.2:c.2628del XP_005249761.1:p.Ser877AlafsTer13
XM_011515272.1:c.2628del XP_011513574.1:p.Ser877AlafsTer13
XM_011515273.1:c.2628del XP_011513575.1:p.Ser877AlafsTer13
XM_011515274.1:c.2451del XP_011513576.1:p.Ser818AlafsTer13
XM_011515274.2:c.2451del XP_011513576.1:p.Ser818AlafsTer13
XM_017011997.1:c.2625del XP_016867486.1:p.Ser876AlafsTer13
NM_000168.6:c.2628del MANE Select NP_000159.3:p.Ser877AlafsTer13
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