Canonical Allele Identifier: CA2695207645

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967821_41967840del , CM000669.2:g.41967821_41967840del	GRCh38
NC_000007.13:g.42007419_42007438del , CM000669.1:g.42007419_42007438del	GRCh37
NC_000007.12:g.41973944_41973963del	NCBI36
NG_008434.1:g.274182_274201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2188_2207del MANE Select	ENSP00000379258.3:p.Leu730Ter
ENST00000677288.1:c.2014_2033del	ENSP00000503986.1:p.Leu672Ter
ENST00000677605.1:c.2188_2207del	ENSP00000503743.1:p.Leu730Ter
ENST00000678429.1:c.2188_2207del	ENSP00000502957.1:p.Leu730Ter
ENST00000395925.7:c.2188_2207del	ENSP00000379258.3:p.Leu730Ter
ENST00000479210.1:n.2165_2184del
NM_000168.5:c.2188_2207del	NP_000159.3:p.Leu730Ter
XM_005249703.1:c.2188_2207del	XP_005249760.1:p.Leu730Ter
XM_005249704.2:c.2188_2207del	XP_005249761.1:p.Leu730Ter
XM_011515272.1:c.2188_2207del	XP_011513574.1:p.Leu730Ter
XM_011515273.1:c.2188_2207del	XP_011513575.1:p.Leu730Ter
XM_011515274.1:c.2011_2030del	XP_011513576.1:p.Leu671Ter
XM_011515274.2:c.2011_2030del	XP_011513576.1:p.Leu671Ter
XM_017011997.1:c.2185_2204del	XP_016867486.1:p.Leu729Ter
NM_000168.6:c.2188_2207del MANE Select	NP_000159.3:p.Leu730Ter