Canonical Allele Identifier: CA2805552005
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362321_1362322insCG , CM000678.2:g.1362321_1362322insCG GRCh38
NC_000016.9:g.1412322_1412323insCG , CM000678.1:g.1412322_1412323insCG GRCh37
NC_000016.8:g.1352323_1352324insCG NCBI36
NG_016985.1:g.15423_15424insCG
NG_033129.1:g.57384_57385insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+1_625+2insCG
ENST00000529110.2:c.610+1_610+2insCG ENSP00000435349.2:n.610+1_610+2insCG
ENST00000529957.6:n.584+1_584+2insCG
ENST00000683366.1:c.*258+1_*258+2insCG ENSP00000507283.1:n.*258+1_*258+2insCG
ENST00000683887.1:c.574+1_574+2insCG ENSP00000506886.1:n.574+1_574+2insCG
ENST00000684100.1:n.520+1_520+2insCG
ENST00000684126.1:n.584+1_584+2insCG
ENST00000684688.1:n.1151+1_1151+2insCG
ENST00000204679.9:c.526+1_526+2insCG MANE Select ENSP00000204679.4:n.526+1_526+2insCG
ENST00000204679.8:c.526+1_526+2insCG ENSP00000204679.4:n.526+1_526+2insCG
ENST00000527076.1:n.1543_1544insCG
ENST00000527168.5:n.563_564insCG
ENST00000529957.5:n.625+1_625+2insCG
NM_032520.4:c.526+1_526+2insCG NP_115909.1:n.526+1_526+2insCG
XM_017023782.1:c.574+1_574+2insCG XP_016879271.1:n.574+1_574+2insCG
XM_017023783.1:c.166+1_166+2insCG XP_016879272.1:n.166+1_166+2insCG
NM_032520.5:c.526+1_526+2insCG MANE Select NP_115909.1:n.526+1_526+2insCG