Canonical Allele Identifier: CA916083469

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 850476
• ClinVar RCV Id: RCV001054649
• dbSNP Id: rs2034941684

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362855del , CM000678.2:g.1362855del	GRCh38
NC_000016.9:g.1412856del , CM000678.1:g.1412856del	GRCh37
NC_000016.8:g.1352857del	NCBI36
NG_016985.1:g.15957del
NG_033129.1:g.56853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.871del
ENST00000529110.2:c.856del	ENSP00000435349.2:p.Arg286GlyfsTer2
ENST00000529957.6:n.830del
ENST00000683366.1:c.*504del	ENSP00000507283.1:n.*504del
ENST00000683887.1:c.820del	ENSP00000506886.1:p.Arg274GlyfsTer2
ENST00000684100.1:n.766del
ENST00000684126.1:n.906del
ENST00000684688.1:n.1397del
ENST00000204679.9:c.772del MANE Select	ENSP00000204679.4:p.Arg258GlyfsTer2
ENST00000204679.8:c.772del	ENSP00000204679.4:p.Arg258GlyfsTer2
ENST00000527076.1:n.1995del
ENST00000527168.5:n.939del
ENST00000529957.5:n.871del
NM_032520.4:c.772del	NP_115909.1:p.Arg258GlyfsTer2
XM_017023782.1:c.820del	XP_016879271.1:p.Arg274GlyfsTer2
XM_017023783.1:c.412del	XP_016879272.1:p.Arg138GlyfsTer2
NM_032520.5:c.772del MANE Select	NP_115909.1:p.Arg258GlyfsTer2