Canonical Allele Identifier: CA2201615207

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362550_1362560delinsGGGTGGCCCCT , CM000678.2:g.1362550_1362560delinsGGGTGGCCCCT	GRCh38
NC_000016.9:g.1412551_1412561delinsGGGTGGCCCCT , CM000678.1:g.1412551_1412561delinsGGGTGGCCCCT	GRCh37
NC_000016.8:g.1352552_1352562delinsGGGTGGCCCCT	NCBI36
NG_016985.1:g.15652_15662delinsGGGTGGCCCCT
NG_033129.1:g.57145_57155delinsAGGGGCCACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+16_708+26delinsGGGTGGCCCCT
ENST00000529110.2:c.693+16_693+26delinsGGGTGGCCCCT	ENSP00000435349.2:n.693+16_693+26delinsGG...
ENST00000529957.6:n.667+16_667+26delinsGGGTGGCCCCT
ENST00000683366.1:c.*341+16_*341+26delinsGGGTGGCCCCT	ENSP00000507283.1:n.*341+16_*341+26delins...
ENST00000683887.1:c.657+16_657+26delinsGGGTGGCCCCT	ENSP00000506886.1:n.657+16_657+26delinsGG...
ENST00000684100.1:n.603+16_603+26delinsGGGTGGCCCCT
ENST00000684126.1:n.683_693delinsGGGTGGCCCCT
ENST00000684688.1:n.1234+16_1234+26delinsGGGTGGCCCCT
ENST00000204679.9:c.609+16_609+26delinsGGGTGGCCCCT MANE Select	ENSP00000204679.4:n.609+16_609+26delinsGG...
ENST00000204679.8:c.609+16_609+26delinsGGGTGGCCCCT	ENSP00000204679.4:n.609+16_609+26delinsGG...
ENST00000527076.1:n.1772_1782delinsGGGTGGCCCCT
ENST00000527168.5:n.776+16_776+26delinsGGGTGGCCCCT
ENST00000529957.5:n.708+16_708+26delinsGGGTGGCCCCT
NM_032520.4:c.609+16_609+26delinsGGGTGGCCCCT	NP_115909.1:n.609+16_609+26delinsGGGTGGCC...
XM_017023782.1:c.657+16_657+26delinsGGGTGGCCCCT	XP_016879271.1:n.657+16_657+26delinsGGGTG...
XM_017023783.1:c.249+16_249+26delinsGGGTGGCCCCT	XP_016879272.1:n.249+16_249+26delinsGGGTG...
NM_032520.5:c.609+16_609+26delinsGGGTGGCCCCT MANE Select	NP_115909.1:n.609+16_609+26delinsGGGTGGCC...