Canonical Allele Identifier: CA2201614006

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361855_1361859delinsGCCAT , CM000678.2:g.1361855_1361859delinsGCCAT	GRCh38
NC_000016.9:g.1411856_1411860delinsGCCAT , CM000678.1:g.1411856_1411860delinsGCCAT	GRCh37
NC_000016.8:g.1351857_1351861delinsGCCAT	NCBI36
NG_016985.1:g.14957_14961delinsGCCAT
NG_033129.1:g.57846_57850delinsATGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-17_333-13delinsGCCAT
ENST00000529110.2:c.318-17_318-13delinsGCCAT	ENSP00000435349.2:n.318-17_318-13delinsGCCAT
ENST00000529957.6:n.292-17_292-13delinsGCCAT
ENST00000683366.1:c.179-17_179-13delinsGCCAT	ENSP00000507283.1:n.179-17_179-13delinsGCCAT
ENST00000683887.1:c.282-17_282-13delinsGCCAT	ENSP00000506886.1:n.282-17_282-13delinsGCCAT
ENST00000684100.1:n.211_215delinsGCCAT
ENST00000684126.1:n.292-17_292-13delinsGCCAT
ENST00000684688.1:n.859-17_859-13delinsGCCAT
ENST00000204679.9:c.234-17_234-13delinsGCCAT MANE Select	ENSP00000204679.4:n.234-17_234-13delinsGCCAT
ENST00000204679.8:c.234-17_234-13delinsGCCAT	ENSP00000204679.4:n.234-17_234-13delinsGCCAT
ENST00000526820.5:c.*136-17_*136-13delinsGCCAT	ENSP00000434413.1:n.*136-17_*136-13delinsGCCAT
ENST00000527076.1:n.1233_1237delinsGCCAT
ENST00000527168.5:n.270-17_270-13delinsGCCAT
ENST00000529110.1:c.301-17_301-13delinsGCCAT
ENST00000529957.5:n.333-17_333-13delinsGCCAT
NM_032520.4:c.234-17_234-13delinsGCCAT	NP_115909.1:n.234-17_234-13delinsGCCAT
XM_017023782.1:c.282-17_282-13delinsGCCAT	XP_016879271.1:n.282-17_282-13delinsGCCAT
XM_017023783.1:c.-127-17_-127-13delinsGCCAT	XP_016879272.1:n.-127-17_-127-13delinsGCCAT
NM_032520.5:c.234-17_234-13delinsGCCAT MANE Select	NP_115909.1:n.234-17_234-13delinsGCCAT