Canonical Allele Identifier: CA2201615017

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362287_1362288delinsAC , CM000678.2:g.1362287_1362288delinsAC	GRCh38
NC_000016.9:g.1412288_1412289delinsAC , CM000678.1:g.1412288_1412289delinsAC	GRCh37
NC_000016.8:g.1352289_1352290delinsAC	NCBI36
NG_016985.1:g.15389_15390delinsAC
NG_033129.1:g.57417_57418delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.592_593delinsAC
ENST00000529110.2:c.577_578delinsAC	ENSP00000435349.2:p.Thr193=
ENST00000529957.6:n.551_552delinsAC
ENST00000683366.1:c.*225_*226delinsAC	ENSP00000507283.1:n.*225_*226delinsAC
ENST00000683887.1:c.541_542delinsAC	ENSP00000506886.1:p.Thr181=
ENST00000684100.1:n.487_488delinsAC
ENST00000684126.1:n.551_552delinsAC
ENST00000684688.1:n.1118_1119delinsAC
ENST00000204679.9:c.493_494delinsAC MANE Select	ENSP00000204679.4:p.Thr165=
ENST00000204679.8:c.493_494delinsAC	ENSP00000204679.4:p.Thr165=
ENST00000527076.1:n.1509_1510delinsAC
ENST00000527168.5:n.529_530delinsAC
ENST00000529957.5:n.592_593delinsAC
NM_032520.4:c.493_494delinsAC	NP_115909.1:p.Thr165=
XM_017023782.1:c.541_542delinsAC	XP_016879271.1:p.Thr181=
XM_017023783.1:c.133_134delinsAC	XP_016879272.1:p.Thr45=
NM_032520.5:c.493_494delinsAC MANE Select	NP_115909.1:p.Thr165=