Canonical Allele Identifier: CA2201615224

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362561_1362595delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC , CM000678.2:g.1362561_1362595delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	GRCh38
NC_000016.9:g.1412562_1412596delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC , CM000678.1:g.1412562_1412596delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	GRCh37
NC_000016.8:g.1352563_1352597delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	NCBI36
NG_016985.1:g.15663_15697delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
NG_033129.1:g.57110_57144delinsGCAGGGGCAGCACCCAGCTCCCAGCCAGGCCCACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+27_709-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000529110.2:c.693+27_694-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	ENSP00000435349.2:n.693+27_694-16delinsGG...
ENST00000529957.6:n.667+27_668-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000683366.1:c.*341+27_*342-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	ENSP00000507283.1:n.*341+27_*342-16delins...
ENST00000683887.1:c.657+27_658-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	ENSP00000506886.1:n.657+27_658-16delinsGG...
ENST00000684100.1:n.603+27_604-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000684126.1:n.694_728delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000684688.1:n.1234+27_1235-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000204679.9:c.609+27_610-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC MANE Select	ENSP00000204679.4:n.609+27_610-16delinsGG...
ENST00000204679.8:c.609+27_610-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	ENSP00000204679.4:n.609+27_610-16delinsGG...
ENST00000527076.1:n.1783_1817delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000527168.5:n.776+27_777-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
ENST00000529957.5:n.708+27_709-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC
NM_032520.4:c.609+27_610-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	NP_115909.1:n.609+27_610-16delinsGGTGGGCC...
XM_017023782.1:c.657+27_658-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	XP_016879271.1:n.657+27_658-16delinsGGTGG...
XM_017023783.1:c.249+27_250-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	XP_016879272.1:n.249+27_250-16delinsGGTGG...
NM_032520.5:c.609+27_610-16delinsGGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC MANE Select	NP_115909.1:n.609+27_610-16delinsGGTGGGCC...