Canonical Allele Identifier: CA2805552000

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362311_1362312del , CM000678.2:g.1362311_1362312del	GRCh38
NC_000016.9:g.1412312_1412313del , CM000678.1:g.1412312_1412313del	GRCh37
NC_000016.8:g.1352313_1352314del	NCBI36
NG_016985.1:g.15413_15414del
NG_033129.1:g.57394_57395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.616_617del
ENST00000529110.2:c.601_602del	ENSP00000435349.2:p.Ala201LeufsTer25
ENST00000529957.6:n.575_576del
ENST00000683366.1:c.*249_*250del	ENSP00000507283.1:n.*249_*250del
ENST00000683887.1:c.565_566del	ENSP00000506886.1:p.Ala189LeufsTer25
ENST00000684100.1:n.511_512del
ENST00000684126.1:n.575_576del
ENST00000684688.1:n.1142_1143del
ENST00000204679.9:c.517_518del MANE Select	ENSP00000204679.4:p.Ala173LeufsTer25
ENST00000204679.8:c.517_518del	ENSP00000204679.4:p.Ala173LeufsTer25
ENST00000527076.1:n.1533_1534del
ENST00000527168.5:n.553_554del
ENST00000529957.5:n.616_617del
NM_032520.4:c.517_518del	NP_115909.1:p.Ala173LeufsTer25
XM_017023782.1:c.565_566del	XP_016879271.1:p.Ala189LeufsTer25
XM_017023783.1:c.157_158del	XP_016879272.1:p.Ala53LeufsTer25
NM_032520.5:c.517_518del MANE Select	NP_115909.1:p.Ala173LeufsTer25