Canonical Allele Identifier: CA2805552003

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362317_1362322del , CM000678.2:g.1362317_1362322del	GRCh38
NC_000016.9:g.1412318_1412323del , CM000678.1:g.1412318_1412323del	GRCh37
NC_000016.8:g.1352319_1352324del	NCBI36
NG_016985.1:g.15419_15424del
NG_033129.1:g.57383_57388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.622_625+2del
ENST00000529110.2:c.607_610+2del
ENST00000529957.6:n.581_584+2del
ENST00000683366.1:c.*255_*258+2del
ENST00000683887.1:c.571_574+2del
ENST00000684100.1:n.517_520+2del
ENST00000684126.1:n.581_584+2del
ENST00000684688.1:n.1148_1151+2del
ENST00000204679.9:c.523_526+2del
ENST00000204679.8:c.523_526+2del
ENST00000527076.1:n.1539_1544del
ENST00000527168.5:n.559_564del
ENST00000529957.5:n.622_625+2del
NM_032520.4:c.523_526+2del
XM_017023782.1:c.571_574+2del
XM_017023783.1:c.163_166+2del
NM_032520.5:c.523_526+2del