Canonical Allele Identifier: CA2805552014

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362374_1362375insA , CM000678.2:g.1362374_1362375insA	GRCh38
NC_000016.9:g.1412375_1412376insA , CM000678.1:g.1412375_1412376insA	GRCh37
NC_000016.8:g.1352376_1352377insA	NCBI36
NG_016985.1:g.15476_15477insA
NG_033129.1:g.57330_57331insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+54_625+55insA
ENST00000529110.2:c.610+54_610+55insA	ENSP00000435349.2:n.610+54_610+55insA
ENST00000529957.6:n.584+54_584+55insA
ENST00000683366.1:c.*258+54_*258+55insA	ENSP00000507283.1:n.*258+54_*258+55insA
ENST00000683887.1:c.574+54_574+55insA	ENSP00000506886.1:n.574+54_574+55insA
ENST00000684100.1:n.520+54_520+55insA
ENST00000684126.1:n.584+54_584+55insA
ENST00000684688.1:n.1151+54_1151+55insA
ENST00000204679.9:c.526+54_526+55insA MANE Select	ENSP00000204679.4:n.526+54_526+55insA
ENST00000204679.8:c.526+54_526+55insA	ENSP00000204679.4:n.526+54_526+55insA
ENST00000527076.1:n.1596_1597insA
ENST00000527168.5:n.616_617insA
ENST00000529957.5:n.625+54_625+55insA
NM_032520.4:c.526+54_526+55insA	NP_115909.1:n.526+54_526+55insA
XM_017023782.1:c.574+54_574+55insA	XP_016879271.1:n.574+54_574+55insA
XM_017023783.1:c.166+54_166+55insA	XP_016879272.1:n.166+54_166+55insA
NM_032520.5:c.526+54_526+55insA MANE Select	NP_115909.1:n.526+54_526+55insA