Canonical Allele Identifier: CA2805552010
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362360_1362361insACA , CM000678.2:g.1362360_1362361insACA GRCh38
NC_000016.9:g.1412361_1412362insACA , CM000678.1:g.1412361_1412362insACA GRCh37
NC_000016.8:g.1352362_1352363insACA NCBI36
NG_016985.1:g.15462_15463insACA
NG_033129.1:g.57344_57345insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+40_625+41insACA
ENST00000529110.2:c.610+40_610+41insACA ENSP00000435349.2:n.610+40_610+41insACA
ENST00000529957.6:n.584+40_584+41insACA
ENST00000683366.1:c.*258+40_*258+41insACA ENSP00000507283.1:n.*258+40_*258+41insACA
ENST00000683887.1:c.574+40_574+41insACA ENSP00000506886.1:n.574+40_574+41insACA
ENST00000684100.1:n.520+40_520+41insACA
ENST00000684126.1:n.584+40_584+41insACA
ENST00000684688.1:n.1151+40_1151+41insACA
ENST00000204679.9:c.526+40_526+41insACA MANE Select ENSP00000204679.4:n.526+40_526+41insACA
ENST00000204679.8:c.526+40_526+41insACA ENSP00000204679.4:n.526+40_526+41insACA
ENST00000527076.1:n.1582_1583insACA
ENST00000527168.5:n.602_603insACA
ENST00000529957.5:n.625+40_625+41insACA
NM_032520.4:c.526+40_526+41insACA NP_115909.1:n.526+40_526+41insACA
XM_017023782.1:c.574+40_574+41insACA XP_016879271.1:n.574+40_574+41insACA
XM_017023783.1:c.166+40_166+41insACA XP_016879272.1:n.166+40_166+41insACA
NM_032520.5:c.526+40_526+41insACA MANE Select NP_115909.1:n.526+40_526+41insACA