Canonical Allele Identifier: CA2201614190

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361925_1361926delinsTC , CM000678.2:g.1361925_1361926delinsTC	GRCh38
NC_000016.9:g.1411926_1411927delinsTC , CM000678.1:g.1411926_1411927delinsTC	GRCh37
NC_000016.8:g.1351927_1351928delinsTC	NCBI36
NG_016985.1:g.15027_15028delinsTC
NG_033129.1:g.57779_57780delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.386_387delinsTC
ENST00000529110.2:c.371_372delinsTC	ENSP00000435349.2:p.Phe124=
ENST00000529957.6:n.345_346delinsTC
ENST00000683366.1:c.*19_*20delinsTC	ENSP00000507283.1:n.*19_*20delinsTC
ENST00000683887.1:c.335_336delinsTC	ENSP00000506886.1:p.Phe112=
ENST00000684100.1:n.281_282delinsTC
ENST00000684126.1:n.345_346delinsTC
ENST00000684688.1:n.912_913delinsTC
ENST00000204679.9:c.287_288delinsTC MANE Select	ENSP00000204679.4:p.Phe96=
ENST00000204679.8:c.287_288delinsTC	ENSP00000204679.4:p.Phe96=
ENST00000526820.5:c.*189_*190delinsTC	ENSP00000434413.1:n.*189_*190delinsTC
ENST00000527076.1:n.1303_1304delinsTC
ENST00000527168.5:n.323_324delinsTC
ENST00000529110.1:c.354_355delinsTC
ENST00000529957.5:n.386_387delinsTC
NM_032520.4:c.287_288delinsTC	NP_115909.1:p.Phe96=
XM_017023782.1:c.335_336delinsTC	XP_016879271.1:p.Phe112=
XM_017023783.1:c.-74_-73delinsTC	XP_016879272.1:n.-74_-73delinsTC
NM_032520.5:c.287_288delinsTC MANE Select	NP_115909.1:p.Phe96=