Canonical Allele Identifier: CA2201614005

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361855_1361866delinsGCCATCTGTGTC , CM000678.2:g.1361855_1361866delinsGCCATCTGTGTC	GRCh38
NC_000016.9:g.1411856_1411867delinsGCCATCTGTGTC , CM000678.1:g.1411856_1411867delinsGCCATCTGTGTC	GRCh37
NC_000016.8:g.1351857_1351868delinsGCCATCTGTGTC	NCBI36
NG_016985.1:g.14957_14968delinsGCCATCTGTGTC
NG_033129.1:g.57839_57850delinsGACACAGATGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-17_333-6delinsGCCATCTGTGTC
ENST00000529110.2:c.318-17_318-6delinsGCCATCTGTGTC	ENSP00000435349.2:n.318-17_318-6delinsGCCATCTGTGTC
ENST00000529957.6:n.292-17_292-6delinsGCCATCTGTGTC
ENST00000683366.1:c.179-17_179-6delinsGCCATCTGTGTC	ENSP00000507283.1:n.179-17_179-6delinsGCCATCTGTGTC
ENST00000683887.1:c.282-17_282-6delinsGCCATCTGTGTC	ENSP00000506886.1:n.282-17_282-6delinsGCCATCTGTGTC
ENST00000684100.1:n.211_222delinsGCCATCTGTGTC
ENST00000684126.1:n.292-17_292-6delinsGCCATCTGTGTC
ENST00000684688.1:n.859-17_859-6delinsGCCATCTGTGTC
ENST00000204679.9:c.234-17_234-6delinsGCCATCTGTGTC MANE Select	ENSP00000204679.4:n.234-17_234-6delinsGCCATCTGTGTC
ENST00000204679.8:c.234-17_234-6delinsGCCATCTGTGTC	ENSP00000204679.4:n.234-17_234-6delinsGCCATCTGTGTC
ENST00000526820.5:c.*136-17_*136-6delinsGCCATCTGTGTC	ENSP00000434413.1:n.*136-17_*136-6delinsGCCATCTGTGTC
ENST00000527076.1:n.1233_1244delinsGCCATCTGTGTC
ENST00000527168.5:n.270-17_270-6delinsGCCATCTGTGTC
ENST00000529110.1:c.301-17_301-6delinsGCCATCTGTGTC
ENST00000529957.5:n.333-17_333-6delinsGCCATCTGTGTC
NM_032520.4:c.234-17_234-6delinsGCCATCTGTGTC	NP_115909.1:n.234-17_234-6delinsGCCATCTGTGTC
XM_017023782.1:c.282-17_282-6delinsGCCATCTGTGTC	XP_016879271.1:n.282-17_282-6delinsGCCATCTGTGTC
XM_017023783.1:c.-127-17_-127-6delinsGCCATCTGTGTC	XP_016879272.1:n.-127-17_-127-6delinsGCCATCTGTGTC
NM_032520.5:c.234-17_234-6delinsGCCATCTGTGTC MANE Select	NP_115909.1:n.234-17_234-6delinsGCCATCTGTGTC