Canonical Allele Identifier: CA2201614539

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362061_1362064delinsCCAA , CM000678.2:g.1362061_1362064delinsCCAA	GRCh38
NC_000016.9:g.1412062_1412065delinsCCAA , CM000678.1:g.1412062_1412065delinsCCAA	GRCh37
NC_000016.8:g.1352063_1352066delinsCCAA	NCBI36
NG_016985.1:g.15163_15166delinsCCAA
NG_033129.1:g.57641_57644delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.440_443delinsCCAA
ENST00000529110.2:c.425_428delinsCCAA	ENSP00000435349.2:p.Ala142=
ENST00000529957.6:n.399_402delinsCCAA
ENST00000683366.1:c.*73_*76delinsCCAA	ENSP00000507283.1:n.*73_*76delinsCCAA
ENST00000683887.1:c.389_392delinsCCAA	ENSP00000506886.1:p.Ala130=
ENST00000684100.1:n.335_338delinsCCAA
ENST00000684126.1:n.399_402delinsCCAA
ENST00000684688.1:n.966_969delinsCCAA
ENST00000204679.9:c.341_344delinsCCAA MANE Select	ENSP00000204679.4:p.Ala114=
ENST00000204679.8:c.341_344delinsCCAA	ENSP00000204679.4:p.Ala114=
ENST00000526820.5:c.*243_*246delinsCCAA	ENSP00000434413.1:n.*243_*246delinsCCAA
ENST00000527076.1:n.1357_1360delinsCCAA
ENST00000527168.5:n.377_380delinsCCAA
ENST00000529110.1:c.408_411delinsCCAA
ENST00000529957.5:n.440_443delinsCCAA
NM_032520.4:c.341_344delinsCCAA	NP_115909.1:p.Ala114=
XM_017023782.1:c.389_392delinsCCAA	XP_016879271.1:p.Ala130=
XM_017023783.1:c.-20_-17delinsCCAA	XP_016879272.1:n.-20_-17delinsCCAA
NM_032520.5:c.341_344delinsCCAA MANE Select	NP_115909.1:p.Ala114=