Canonical Allele Identifier: CA2201615427

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362842_1362845delinsAAAG , CM000678.2:g.1362842_1362845delinsAAAG	GRCh38
NC_000016.9:g.1412843_1412846delinsAAAG , CM000678.1:g.1412843_1412846delinsAAAG	GRCh37
NC_000016.8:g.1352844_1352847delinsAAAG	NCBI36
NG_016985.1:g.15944_15947delinsAAAG
NG_033129.1:g.56860_56863delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.858_861delinsAAAG
ENST00000529110.2:c.843_846delinsAAAG	ENSP00000435349.2:p.Ser281=
ENST00000529957.6:n.817_820delinsAAAG
ENST00000683366.1:c.*491_*494delinsAAAG	ENSP00000507283.1:n.*491_*494delinsAAAG
ENST00000683887.1:c.807_810delinsAAAG	ENSP00000506886.1:p.Ser269=
ENST00000684100.1:n.753_756delinsAAAG
ENST00000684126.1:n.893_896delinsAAAG
ENST00000684688.1:n.1384_1387delinsAAAG
ENST00000204679.9:c.759_762delinsAAAG MANE Select	ENSP00000204679.4:p.Ser253=
ENST00000204679.8:c.759_762delinsAAAG	ENSP00000204679.4:p.Ser253=
ENST00000527076.1:n.1982_1985delinsAAAG
ENST00000527168.5:n.926_929delinsAAAG
ENST00000529957.5:n.858_861delinsAAAG
NM_032520.4:c.759_762delinsAAAG	NP_115909.1:p.Ser253=
XM_017023782.1:c.807_810delinsAAAG	XP_016879271.1:p.Ser269=
XM_017023783.1:c.399_402delinsAAAG	XP_016879272.1:p.Ser133=
NM_032520.5:c.759_762delinsAAAG MANE Select	NP_115909.1:p.Ser253=