Canonical Allele Identifier: CA2201615210
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362554_1362587delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT , CM000678.2:g.1362554_1362587delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT GRCh38
NC_000016.9:g.1412555_1412588delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT , CM000678.1:g.1412555_1412588delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT GRCh37
NC_000016.8:g.1352556_1352589delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT NCBI36
NG_016985.1:g.15656_15689delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
NG_033129.1:g.57118_57151delinsAGCACCCAGCTCCCAGCCAGGCCCACCAGGGGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.708+20_709-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000529110.2:c.693+20_694-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT ENSP00000435349.2:n.693+20_694-24delinsGG...
ENST00000529957.6:n.667+20_668-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000683366.1:c.*341+20_*342-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT ENSP00000507283.1:n.*341+20_*342-24delins...
ENST00000683887.1:c.657+20_658-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT ENSP00000506886.1:n.657+20_658-24delinsGG...
ENST00000684100.1:n.603+20_604-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000684126.1:n.687_720delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000684688.1:n.1234+20_1235-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000204679.9:c.609+20_610-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT MANE Select ENSP00000204679.4:n.609+20_610-24delinsGG...
ENST00000204679.8:c.609+20_610-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT ENSP00000204679.4:n.609+20_610-24delinsGG...
ENST00000527076.1:n.1776_1809delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000527168.5:n.776+20_777-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
ENST00000529957.5:n.708+20_709-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT
NM_032520.4:c.609+20_610-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT NP_115909.1:n.609+20_610-24delinsGGCCCCTG...
XM_017023782.1:c.657+20_658-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT XP_016879271.1:n.657+20_658-24delinsGGCCC...
XM_017023783.1:c.249+20_250-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT XP_016879272.1:n.249+20_250-24delinsGGCCC...
NM_032520.5:c.609+20_610-24delinsGGCCCCTGGTGGGCCTGGCTGGGAGCTGGGTGCT MANE Select NP_115909.1:n.609+20_610-24delinsGGCCCCTG...