Canonical Allele Identifier: CA2731773739

Gene: GNPTG

Linked Data

• dbSNP Id: rs2141864365

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362728del , CM000678.2:g.1362728del	GRCh38
NC_000016.9:g.1412729del , CM000678.1:g.1412729del	GRCh37
NC_000016.8:g.1352730del	NCBI36
NG_016985.1:g.15830del
NG_033129.1:g.56978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.826del
ENST00000529110.2:c.811del	ENSP00000435349.2:p.Glu271LysfsTer17
ENST00000529957.6:n.785del
ENST00000683366.1:c.*459del	ENSP00000507283.1:n.*459del
ENST00000683887.1:c.775del	ENSP00000506886.1:p.Glu259LysfsTer17
ENST00000684100.1:n.721del
ENST00000684126.1:n.861del
ENST00000684688.1:n.1352del
ENST00000204679.9:c.727del MANE Select	ENSP00000204679.4:p.Glu243LysfsTer17
ENST00000204679.8:c.727del	ENSP00000204679.4:p.Glu243LysfsTer17
ENST00000527076.1:n.1950del
ENST00000527168.5:n.894del
ENST00000529957.5:n.826del
NM_032520.4:c.727del	NP_115909.1:p.Glu243LysfsTer17
XM_017023782.1:c.775del	XP_016879271.1:p.Glu259LysfsTer17
XM_017023783.1:c.367del	XP_016879272.1:p.Glu123LysfsTer17
NM_032520.5:c.727del MANE Select	NP_115909.1:p.Glu243LysfsTer17