Canonical Allele Identifier: CA2840406876

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966444_41966445insCCAGCGAGGCGTCACA , CM000669.2:g.41966444_41966445insCCAGCGAGGCGTCACA	GRCh38
NC_000007.13:g.42006042_42006043insCCAGCGAGGCGTCACA , CM000669.1:g.42006042_42006043insCCAGCGAGGCGTCACA	GRCh37
NC_000007.12:g.41972567_41972568insCCAGCGAGGCGTCACA	NCBI36
NG_008434.1:g.275576_275577insTGTGACGCCTCGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2628_2629insTGTGACGCCTCGCTGG MANE Select	ENSP00000379258.3:p.Ser877CysfsTer?
ENST00000677288.1:c.2454_2455insTGTGACGCCTCGCTGG	ENSP00000503986.1:p.Ser819CysfsTer?
ENST00000677605.1:c.2628_2629insTGTGACGCCTCGCTGG	ENSP00000503743.1:p.Ser877CysfsTer?
ENST00000678429.1:c.2628_2629insTGTGACGCCTCGCTGG	ENSP00000502957.1:p.Ser877CysfsTer?
ENST00000395925.7:c.2628_2629insTGTGACGCCTCGCTGG	ENSP00000379258.3:p.Ser877CysfsTer?
ENST00000479210.1:n.2605_2606insTGTGACGCCTCGCTGG
NM_000168.5:c.2628_2629insTGTGACGCCTCGCTGG	NP_000159.3:p.Ser877CysfsTer?
XM_005249703.1:c.2628_2629insTGTGACGCCTCGCTGG	XP_005249760.1:p.Ser877CysfsTer?
XM_005249704.2:c.2628_2629insTGTGACGCCTCGCTGG	XP_005249761.1:p.Ser877CysfsTer?
XM_011515272.1:c.2628_2629insTGTGACGCCTCGCTGG	XP_011513574.1:p.Ser877CysfsTer?
XM_011515273.1:c.2628_2629insTGTGACGCCTCGCTGG	XP_011513575.1:p.Ser877CysfsTer?
XM_011515274.1:c.2451_2452insTGTGACGCCTCGCTGG	XP_011513576.1:p.Ser818CysfsTer?
XM_011515274.2:c.2451_2452insTGTGACGCCTCGCTGG	XP_011513576.1:p.Ser818CysfsTer?
XM_017011997.1:c.2625_2626insTGTGACGCCTCGCTGG	XP_016867486.1:p.Ser876CysfsTer?
NM_000168.6:c.2628_2629insTGTGACGCCTCGCTGG MANE Select	NP_000159.3:p.Ser877CysfsTer?