Canonical Allele Identifier: CA2695221952

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361923dup , CM000678.2:g.1361923dup	GRCh38
NC_000016.9:g.1411924dup , CM000678.1:g.1411924dup	GRCh37
NC_000016.8:g.1351925dup	NCBI36
NG_016985.1:g.15025dup
NG_033129.1:g.57783dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.384dup
ENST00000529110.2:c.369dup	ENSP00000435349.2:p.Phe124LeufsTer?
ENST00000529957.6:n.343dup
ENST00000683366.1:c.*17dup	ENSP00000507283.1:n.*17dup
ENST00000683887.1:c.333dup	ENSP00000506886.1:p.Phe112LeufsTer?
ENST00000684100.1:n.279dup
ENST00000684126.1:n.343dup
ENST00000684688.1:n.910dup
ENST00000204679.9:c.285dup MANE Select	ENSP00000204679.4:p.Phe96LeufsTer?
ENST00000204679.8:c.285dup	ENSP00000204679.4:p.Phe96LeufsTer?
ENST00000526820.5:c.*187dup	ENSP00000434413.1:n.*187dup
ENST00000527076.1:n.1301dup
ENST00000527168.5:n.321dup
ENST00000529110.1:c.352dup
ENST00000529957.5:n.384dup
NM_032520.4:c.285dup	NP_115909.1:p.Phe96LeufsTer?
XM_017023782.1:c.333dup	XP_016879271.1:p.Phe112LeufsTer?
XM_017023783.1:c.-76dup	XP_016879272.1:n.-76dup
NM_032520.5:c.285dup MANE Select	NP_115909.1:p.Phe96LeufsTer?