Canonical Allele Identifier: CA2201615219

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362559_1362569delinsCTGGTGGGCCT , CM000678.2:g.1362559_1362569delinsCTGGTGGGCCT	GRCh38
NC_000016.9:g.1412560_1412570delinsCTGGTGGGCCT , CM000678.1:g.1412560_1412570delinsCTGGTGGGCCT	GRCh37
NC_000016.8:g.1352561_1352571delinsCTGGTGGGCCT	NCBI36
NG_016985.1:g.15661_15671delinsCTGGTGGGCCT
NG_033129.1:g.57136_57146delinsAGGCCCACCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+25_708+35delinsCTGGTGGGCCT
ENST00000529110.2:c.693+25_693+35delinsCTGGTGGGCCT	ENSP00000435349.2:n.693+25_693+35delinsCT...
ENST00000529957.6:n.667+25_667+35delinsCTGGTGGGCCT
ENST00000683366.1:c.*341+25_*341+35delinsCTGGTGGGCCT	ENSP00000507283.1:n.*341+25_*341+35delins...
ENST00000683887.1:c.657+25_657+35delinsCTGGTGGGCCT	ENSP00000506886.1:n.657+25_657+35delinsCT...
ENST00000684100.1:n.603+25_603+35delinsCTGGTGGGCCT
ENST00000684126.1:n.692_702delinsCTGGTGGGCCT
ENST00000684688.1:n.1234+25_1234+35delinsCTGGTGGGCCT
ENST00000204679.9:c.609+25_609+35delinsCTGGTGGGCCT MANE Select	ENSP00000204679.4:n.609+25_609+35delinsCT...
ENST00000204679.8:c.609+25_609+35delinsCTGGTGGGCCT	ENSP00000204679.4:n.609+25_609+35delinsCT...
ENST00000527076.1:n.1781_1791delinsCTGGTGGGCCT
ENST00000527168.5:n.776+25_776+35delinsCTGGTGGGCCT
ENST00000529957.5:n.708+25_708+35delinsCTGGTGGGCCT
NM_032520.4:c.609+25_609+35delinsCTGGTGGGCCT	NP_115909.1:n.609+25_609+35delinsCTGGTGGG...
XM_017023782.1:c.657+25_657+35delinsCTGGTGGGCCT	XP_016879271.1:n.657+25_657+35delinsCTGGT...
XM_017023783.1:c.249+25_249+35delinsCTGGTGGGCCT	XP_016879272.1:n.249+25_249+35delinsCTGGT...
NM_032520.5:c.609+25_609+35delinsCTGGTGGGCCT MANE Select	NP_115909.1:n.609+25_609+35delinsCTGGTGGG...