Canonical Allele Identifier: CA2775180373

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048818_42048819insCACACAACCAAACACACCCAACAC , CM000669.2:g.42048818_42048819insCACACAACCAAACACACCCAACAC	GRCh38
NC_000007.13:g.42088417_42088418insCACACAACCAAACACACCCAACAC , CM000669.1:g.42088417_42088418insCACACAACCAAACACACCCAACAC	GRCh37
NC_000007.12:g.42054942_42054943insCACACAACCAAACACACCCAACAC	NCBI36
NG_008434.1:g.193201_193202insGTGTTGGGTGTGTTTGGTTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG MANE Select	ENSP00000379258.3:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000677288.1:c.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGTG	ENSP00000503986.1:n.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000677605.1:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	ENSP00000503743.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000678429.1:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	ENSP00000502957.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000395925.7:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	ENSP00000379258.3:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000448703.5:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	ENSP00000406135.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGT...
ENST00000479210.1:n.451-123_451-122insGTGTTGGGTGTGTTTGGTTGTGTG
NM_000168.5:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	NP_000159.3:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_005249703.1:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_005249760.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_005249704.2:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_005249761.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_011515272.1:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_011513574.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_011515273.1:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_011513575.1:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_011515274.1:c.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_011513576.1:n.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_011515274.2:c.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_011513576.1:n.297-123_297-122insGTGTTGGGTGTGTTTGGTTGTGTG
XM_017011997.1:c.471-123_471-122insGTGTTGGGTGTGTTTGGTTGTGTG	XP_016867486.1:n.471-123_471-122insGTGTTGGGTGTGTTTGGTTGTGTG
NM_000168.6:c.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG MANE Select	NP_000159.3:n.474-123_474-122insGTGTTGGGTGTGTTTGGTTGTGTG