Canonical Allele Identifier: CA2630959334

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2703198
• ClinVar RCV Id: RCV003579199
• gnomAD v4: 16-1362073-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362075_1362076dup , CM000678.2:g.1362075_1362076dup	GRCh38
NC_000016.9:g.1412076_1412077dup , CM000678.1:g.1412076_1412077dup	GRCh37
NC_000016.8:g.1352077_1352078dup	NCBI36
NG_016985.1:g.15177_15178dup
NG_033129.1:g.57630_57631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.454_455dup
ENST00000529110.2:c.439_440dup	ENSP00000435349.2:p.Gly148ArgfsTer5
ENST00000529957.6:n.413_414dup
ENST00000683366.1:c.*87_*88dup	ENSP00000507283.1:n.*87_*88dup
ENST00000683887.1:c.403_404dup	ENSP00000506886.1:p.Gly136ArgfsTer5
ENST00000684100.1:n.349_350dup
ENST00000684126.1:n.413_414dup
ENST00000684688.1:n.980_981dup
ENST00000204679.9:c.355_356dup MANE Select	ENSP00000204679.4:p.Gly120ArgfsTer5
ENST00000204679.8:c.355_356dup	ENSP00000204679.4:p.Gly120ArgfsTer5
ENST00000526820.5:c.*257_*258dup	ENSP00000434413.1:n.*257_*258dup
ENST00000527076.1:n.1371_1372dup
ENST00000527168.5:n.391_392dup
ENST00000529110.1:c.422_423dup
ENST00000529957.5:n.454_455dup
NM_032520.4:c.355_356dup	NP_115909.1:p.Gly120ArgfsTer5
XM_017023782.1:c.403_404dup	XP_016879271.1:p.Gly136ArgfsTer5
XM_017023783.1:c.-6_-5dup	XP_016879272.1:n.-6_-5dup
NM_032520.5:c.355_356dup MANE Select	NP_115909.1:p.Gly120ArgfsTer5