Canonical Allele Identifier: CA1702659131
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41962076_41962078delinsCTG , CM000669.2:g.41962076_41962078delinsCTG GRCh38
NC_000007.13:g.42001674_42001676delinsCTG , CM000669.1:g.42001674_42001676delinsCTG GRCh37
NC_000007.12:g.41968199_41968201delinsCTG NCBI36
NG_008434.1:g.279943_279945delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.*2252_*2254delinsCAG MANE Select ENSP00000379258.3:n.*2252_*2254delinsCAG
ENST00000677288.1:c.*2252_*2254delinsCAG ENSP00000503986.1:n.*2252_*2254delinsCAG
ENST00000677605.1:c.*2252_*2254delinsCAG ENSP00000503743.1:n.*2252_*2254delinsCAG
ENST00000678429.1:c.*2252_*2254delinsCAG ENSP00000502957.1:n.*2252_*2254delinsCAG
ENST00000395925.7:c.*2252_*2254delinsCAG ENSP00000379258.3:n.*2252_*2254delinsCAG
NM_000168.5:c.*2252_*2254delinsCAG NP_000159.3:n.*2252_*2254delinsCAG
XM_005249703.1:c.*2252_*2254delinsCAG XP_005249760.1:n.*2252_*2254delinsCAG
XM_005249704.2:c.*2252_*2254delinsCAG XP_005249761.1:n.*2252_*2254delinsCAG
XM_011515272.1:c.*2252_*2254delinsCAG XP_011513574.1:n.*2252_*2254delinsCAG
XM_011515273.1:c.*2252_*2254delinsCAG XP_011513575.1:n.*2252_*2254delinsCAG
XM_011515274.1:c.*2252_*2254delinsCAG XP_011513576.1:n.*2252_*2254delinsCAG
NM_000168.6:c.*2252_*2254delinsCAG MANE Select NP_000159.3:n.*2252_*2254delinsCAG