Canonical Allele Identifier: CA454661849
Gene: GLI3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.42005573del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965980del , CM000669.2:g.41965980del GRCh38
NC_000007.13:g.42005578del , CM000669.1:g.42005578del GRCh37
NC_000007.12:g.41972103del NCBI36
NG_008434.1:g.276046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3098del MANE Select ENSP00000379258.3:p.Pro1033ArgfsTer?
ENST00000677288.1:c.2924del ENSP00000503986.1:p.Pro975ArgfsTer?
ENST00000677605.1:c.3098del ENSP00000503743.1:p.Pro1033ArgfsTer?
ENST00000678429.1:c.3098del ENSP00000502957.1:p.Pro1033ArgfsTer?
ENST00000395925.7:c.3098del ENSP00000379258.3:p.Pro1033ArgfsTer?
ENST00000479210.1:n.3075del
NM_000168.5:c.3098del NP_000159.3:p.Pro1033ArgfsTer?
XM_005249703.1:c.3098del XP_005249760.1:p.Pro1033ArgfsTer?
XM_005249704.2:c.3098del XP_005249761.1:p.Pro1033ArgfsTer?
XM_011515272.1:c.3098del XP_011513574.1:p.Pro1033ArgfsTer?
XM_011515273.1:c.3098del XP_011513575.1:p.Pro1033ArgfsTer?
XM_011515274.1:c.2921del XP_011513576.1:p.Pro974ArgfsTer?
XM_011515274.2:c.2921del XP_011513576.1:p.Pro974ArgfsTer?
XM_017011997.1:c.3095del XP_016867486.1:p.Pro1032ArgfsTer?
NM_000168.6:c.3098del MANE Select NP_000159.3:p.Pro1033ArgfsTer?