Canonical Allele Identifier: CA2580090507

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2118763
• ClinVar RCV Id: RCV003053790

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361938del , CM000678.2:g.1361938del	GRCh38
NC_000016.9:g.1411939del , CM000678.1:g.1411939del	GRCh37
NC_000016.8:g.1351940del	NCBI36
NG_016985.1:g.15040del
NG_033129.1:g.57768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.399del
ENST00000529110.2:c.384del	ENSP00000435349.2:p.Tyr129ThrfsTer23
ENST00000529957.6:n.358del
ENST00000683366.1:c.*32del	ENSP00000507283.1:n.*32del
ENST00000683887.1:c.348del	ENSP00000506886.1:p.Tyr117ThrfsTer23
ENST00000684100.1:n.294del
ENST00000684126.1:n.358del
ENST00000684688.1:n.925del
ENST00000204679.9:c.300del MANE Select	ENSP00000204679.4:p.Tyr101ThrfsTer23
ENST00000204679.8:c.300del	ENSP00000204679.4:p.Tyr101ThrfsTer23
ENST00000526820.5:c.*202del	ENSP00000434413.1:n.*202del
ENST00000527076.1:n.1316del
ENST00000527168.5:n.336del
ENST00000529110.1:c.367del
ENST00000529957.5:n.399del
NM_032520.4:c.300del	NP_115909.1:p.Tyr101ThrfsTer23
XM_017023782.1:c.348del	XP_016879271.1:p.Tyr117ThrfsTer23
XM_017023783.1:c.-61del	XP_016879272.1:n.-61del
NM_032520.5:c.300del MANE Select	NP_115909.1:p.Tyr101ThrfsTer23