Canonical Allele Identifier: CA2695207677
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048603_42048605delinsAGA , CM000669.2:g.42048603_42048605delinsAGA GRCh38
NC_000007.13:g.42088202_42088204delinsAGA , CM000669.1:g.42088202_42088204delinsAGA GRCh37
NC_000007.12:g.42054727_42054729delinsAGA NCBI36
NG_008434.1:g.193415_193417delinsTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.565_567delinsTCT MANE Select ENSP00000379258.3:p.Pro189Ser
ENST00000677288.1:c.388_390delinsTCT ENSP00000503986.1:p.Pro130Ser
ENST00000677605.1:c.565_567delinsTCT ENSP00000503743.1:p.Pro189Ser
ENST00000678429.1:c.565_567delinsTCT ENSP00000502957.1:p.Pro189Ser
ENST00000395925.7:c.565_567delinsTCT ENSP00000379258.3:p.Pro189Ser
ENST00000479210.1:n.542_544delinsTCT
NM_000168.5:c.565_567delinsTCT NP_000159.3:p.Pro189Ser
XM_005249703.1:c.565_567delinsTCT XP_005249760.1:p.Pro189Ser
XM_005249704.2:c.565_567delinsTCT XP_005249761.1:p.Pro189Ser
XM_011515272.1:c.565_567delinsTCT XP_011513574.1:p.Pro189Ser
XM_011515273.1:c.565_567delinsTCT XP_011513575.1:p.Pro189Ser
XM_011515274.1:c.388_390delinsTCT XP_011513576.1:p.Pro130Ser
XM_011515274.2:c.388_390delinsTCT XP_011513576.1:p.Pro130Ser
XM_017011997.1:c.562_564delinsTCT XP_016867486.1:p.Pro188Ser
NM_000168.6:c.565_567delinsTCT MANE Select NP_000159.3:p.Pro189Ser