Canonical Allele Identifier: CA2839079991

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361795dup , CM000678.2:g.1361795dup	GRCh38
NC_000016.9:g.1411796dup , CM000678.1:g.1411796dup	GRCh37
NC_000016.8:g.1351797dup	NCBI36
NG_016985.1:g.14897dup
NG_033129.1:g.57911dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.330dup
ENST00000529110.2:c.315dup	ENSP00000435349.2:p.Thr106HisfsTer5
ENST00000529957.6:n.289dup
ENST00000683366.1:c.179-77dup	ENSP00000507283.1:n.179-77dup
ENST00000683887.1:c.279dup	ENSP00000506886.1:p.Thr94HisfsTer5
ENST00000684100.1:n.151dup
ENST00000684126.1:n.289dup
ENST00000684688.1:n.856dup
ENST00000204679.9:c.231dup MANE Select	ENSP00000204679.4:p.Thr78HisfsTer5
ENST00000204679.8:c.231dup	ENSP00000204679.4:p.Thr78HisfsTer5
ENST00000526820.5:c.*133dup	ENSP00000434413.1:n.*133dup
ENST00000527076.1:n.1173dup
ENST00000527168.5:n.270-77dup
ENST00000529110.1:c.298dup
ENST00000529957.5:n.330dup
NM_032520.4:c.231dup	NP_115909.1:p.Thr78HisfsTer5
XM_017023782.1:c.279dup	XP_016879271.1:p.Thr94HisfsTer5
XM_017023783.1:c.-130dup	XP_016879272.1:n.-130dup
NM_032520.5:c.231dup MANE Select	NP_115909.1:p.Thr78HisfsTer5