Canonical Allele Identifier: CA2201615067
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362354_1362355delinsGT , CM000678.2:g.1362354_1362355delinsGT GRCh38
NC_000016.9:g.1412355_1412356delinsGT , CM000678.1:g.1412355_1412356delinsGT GRCh37
NC_000016.8:g.1352356_1352357delinsGT NCBI36
NG_016985.1:g.15456_15457delinsGT
NG_033129.1:g.57350_57351delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+34_625+35delinsGT
ENST00000529110.2:c.610+34_610+35delinsGT ENSP00000435349.2:n.610+34_610+35delinsGT
ENST00000529957.6:n.584+34_584+35delinsGT
ENST00000683366.1:c.*258+34_*258+35delinsGT ENSP00000507283.1:n.*258+34_*258+35delinsGT
ENST00000683887.1:c.574+34_574+35delinsGT ENSP00000506886.1:n.574+34_574+35delinsGT
ENST00000684100.1:n.520+34_520+35delinsGT
ENST00000684126.1:n.584+34_584+35delinsGT
ENST00000684688.1:n.1151+34_1151+35delinsGT
ENST00000204679.9:c.526+34_526+35delinsGT MANE Select ENSP00000204679.4:n.526+34_526+35delinsGT
ENST00000204679.8:c.526+34_526+35delinsGT ENSP00000204679.4:n.526+34_526+35delinsGT
ENST00000527076.1:n.1576_1577delinsGT
ENST00000527168.5:n.596_597delinsGT
ENST00000529957.5:n.625+34_625+35delinsGT
NM_032520.4:c.526+34_526+35delinsGT NP_115909.1:n.526+34_526+35delinsGT
XM_017023782.1:c.574+34_574+35delinsGT XP_016879271.1:n.574+34_574+35delinsGT
XM_017023783.1:c.166+34_166+35delinsGT XP_016879272.1:n.166+34_166+35delinsGT
NM_032520.5:c.526+34_526+35delinsGT MANE Select NP_115909.1:n.526+34_526+35delinsGT