Canonical Allele Identifier: CA2201615090

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362380_1362397delinsAGGCCCTGTAGTGCTGGG , CM000678.2:g.1362380_1362397delinsAGGCCCTGTAGTGCTGGG	GRCh38
NC_000016.9:g.1412381_1412398delinsAGGCCCTGTAGTGCTGGG , CM000678.1:g.1412381_1412398delinsAGGCCCTGTAGTGCTGGG	GRCh37
NC_000016.8:g.1352382_1352399delinsAGGCCCTGTAGTGCTGGG	NCBI36
NG_016985.1:g.15482_15499delinsAGGCCCTGTAGTGCTGGG
NG_033129.1:g.57308_57325delinsCCCAGCACTACAGGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+60_626-55delinsAGGCCCTGTAGTGCTGGG
ENST00000529110.2:c.610+60_611-55delinsAGGCCCTGTAGTGCTGGG	ENSP00000435349.2:n.610+60_611-55delinsAGGCCCTGTAGTGCTGGG
ENST00000529957.6:n.584+60_585-55delinsAGGCCCTGTAGTGCTGGG
ENST00000683366.1:c.*258+60_*259-55delinsAGGCCCTGTAGTGCTGGG	ENSP00000507283.1:n.*258+60_*259-55delinsAGGCCCTGTAGTGCTGGG
ENST00000683887.1:c.574+60_575-55delinsAGGCCCTGTAGTGCTGGG	ENSP00000506886.1:n.574+60_575-55delinsAGGCCCTGTAGTGCTGGG
ENST00000684100.1:n.520+60_521-55delinsAGGCCCTGTAGTGCTGGG
ENST00000684126.1:n.584+60_585-55delinsAGGCCCTGTAGTGCTGGG
ENST00000684688.1:n.1151+60_1152-55delinsAGGCCCTGTAGTGCTGGG
ENST00000204679.9:c.526+60_527-55delinsAGGCCCTGTAGTGCTGGG MANE Select	ENSP00000204679.4:n.526+60_527-55delinsAGGCCCTGTAGTGCTGGG
ENST00000204679.8:c.526+60_527-55delinsAGGCCCTGTAGTGCTGGG	ENSP00000204679.4:n.526+60_527-55delinsAGGCCCTGTAGTGCTGGG
ENST00000527076.1:n.1602_1619delinsAGGCCCTGTAGTGCTGGG
ENST00000527168.5:n.622_639delinsAGGCCCTGTAGTGCTGGG
ENST00000529957.5:n.625+60_626-55delinsAGGCCCTGTAGTGCTGGG
NM_032520.4:c.526+60_527-55delinsAGGCCCTGTAGTGCTGGG	NP_115909.1:n.526+60_527-55delinsAGGCCCTGTAGTGCTGGG
XM_017023782.1:c.574+60_575-55delinsAGGCCCTGTAGTGCTGGG	XP_016879271.1:n.574+60_575-55delinsAGGCCCTGTAGTGCTGGG
XM_017023783.1:c.166+60_167-55delinsAGGCCCTGTAGTGCTGGG	XP_016879272.1:n.166+60_167-55delinsAGGCCCTGTAGTGCTGGG
NM_032520.5:c.526+60_527-55delinsAGGCCCTGTAGTGCTGGG MANE Select	NP_115909.1:n.526+60_527-55delinsAGGCCCTGTAGTGCTGGG