Canonical Allele Identifier: CA2695207670
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040143del , CM000669.2:g.42040143del GRCh38
NC_000007.13:g.42079742del , CM000669.1:g.42079742del GRCh37
NC_000007.12:g.42046267del NCBI36
NG_008434.1:g.201878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.924del MANE Select ENSP00000379258.3:p.Met309Ter
ENST00000677288.1:c.747del ENSP00000503986.1:p.Met250Ter
ENST00000677605.1:c.924del ENSP00000503743.1:p.Met309Ter
ENST00000678429.1:c.924del ENSP00000502957.1:p.Met309Ter
ENST00000395925.7:c.924del ENSP00000379258.3:p.Met309Ter
ENST00000479210.1:n.901del
NM_000168.5:c.924del NP_000159.3:p.Met309Ter
XM_005249703.1:c.924del XP_005249760.1:p.Met309Ter
XM_005249704.2:c.924del XP_005249761.1:p.Met309Ter
XM_011515272.1:c.924del XP_011513574.1:p.Met309Ter
XM_011515273.1:c.924del XP_011513575.1:p.Met309Ter
XM_011515274.1:c.747del XP_011513576.1:p.Met250Ter
XM_011515274.2:c.747del XP_011513576.1:p.Met250Ter
XM_017011997.1:c.921del XP_016867486.1:p.Met308Ter
NM_000168.6:c.924del MANE Select NP_000159.3:p.Met309Ter