Canonical Allele Identifier: CA2580090554

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1725183
• ClinVar RCV Id: RCV002308242

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362524_1362525insG , CM000678.2:g.1362524_1362525insG	GRCh38
NC_000016.9:g.1412525_1412526insG , CM000678.1:g.1412525_1412526insG	GRCh37
NC_000016.8:g.1352526_1352527insG	NCBI36
NG_016985.1:g.15626_15627insG
NG_033129.1:g.57180_57181insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.698_699insG
ENST00000529110.2:c.683_684insG	ENSP00000435349.2:p.Ile228MetfsTer7
ENST00000529957.6:n.657_658insG
ENST00000683366.1:c.*331_*332insG	ENSP00000507283.1:n.*331_*332insG
ENST00000683887.1:c.647_648insG	ENSP00000506886.1:p.Ile216MetfsTer7
ENST00000684100.1:n.593_594insG
ENST00000684126.1:n.657_658insG
ENST00000684688.1:n.1224_1225insG
ENST00000204679.9:c.599_600insG MANE Select	ENSP00000204679.4:p.Ile200MetfsTer7
ENST00000204679.8:c.599_600insG	ENSP00000204679.4:p.Ile200MetfsTer7
ENST00000527076.1:n.1746_1747insG
ENST00000527168.5:n.766_767insG
ENST00000529957.5:n.698_699insG
NM_032520.4:c.599_600insG	NP_115909.1:p.Ile200MetfsTer7
XM_017023782.1:c.647_648insG	XP_016879271.1:p.Ile216MetfsTer7
XM_017023783.1:c.239_240insG	XP_016879272.1:p.Ile80MetfsTer7
NM_032520.5:c.599_600insG MANE Select	NP_115909.1:p.Ile200MetfsTer7