Canonical Allele Identifier: CA2201614892

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362227_1362238delinsAGCAACCGGCTG , CM000678.2:g.1362227_1362238delinsAGCAACCGGCTG	GRCh38
NC_000016.9:g.1412228_1412239delinsAGCAACCGGCTG , CM000678.1:g.1412228_1412239delinsAGCAACCGGCTG	GRCh37
NC_000016.8:g.1352229_1352240delinsAGCAACCGGCTG	NCBI36
NG_016985.1:g.15329_15340delinsAGCAACCGGCTG
NG_033129.1:g.57467_57478delinsCAGCCGGTTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.532_543delinsAGCAACCGGCTG
ENST00000529110.2:c.517_528delinsAGCAACCGGCTG	ENSP00000435349.2:p.Ser173=
ENST00000529957.6:n.491_502delinsAGCAACCGGCTG
ENST00000683366.1:c.*165_*176delinsAGCAACCGGCTG	ENSP00000507283.1:n.*165_*176delinsAGCAACCGGCTG
ENST00000683887.1:c.481_492delinsAGCAACCGGCTG	ENSP00000506886.1:p.Ser161=
ENST00000684100.1:n.427_438delinsAGCAACCGGCTG
ENST00000684126.1:n.491_502delinsAGCAACCGGCTG
ENST00000684688.1:n.1058_1069delinsAGCAACCGGCTG
ENST00000204679.9:c.433_444delinsAGCAACCGGCTG MANE Select	ENSP00000204679.4:p.Ser145=
ENST00000204679.8:c.433_444delinsAGCAACCGGCTG	ENSP00000204679.4:p.Ser145=
ENST00000527076.1:n.1449_1460delinsAGCAACCGGCTG
ENST00000527168.5:n.469_480delinsAGCAACCGGCTG
ENST00000529110.1:c.500_511delinsAGCAACCGGCTG
ENST00000529957.5:n.532_543delinsAGCAACCGGCTG
NM_032520.4:c.433_444delinsAGCAACCGGCTG	NP_115909.1:p.Ser145=
XM_017023782.1:c.481_492delinsAGCAACCGGCTG	XP_016879271.1:p.Ser161=
XM_017023783.1:c.73_84delinsAGCAACCGGCTG	XP_016879272.1:p.Ser25=
NM_032520.5:c.433_444delinsAGCAACCGGCTG MANE Select	NP_115909.1:p.Ser145=