Canonical Allele Identifier: CA2058957874

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770113_101770114delinsGC , CM000674.2:g.101770113_101770114delinsGC	GRCh38
NC_000012.11:g.102163891_102163892delinsGC , CM000674.1:g.102163891_102163892delinsGC	GRCh37
NC_000012.10:g.100688022_100688023delinsGC	NCBI36
NG_021243.1:g.65754_65755delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1191_1192delinsGC MANE Select	ENSP00000299314.7:p.Gly397=
ENST00000299314.11:c.1191_1192delinsGC	ENSP00000299314.7:p.Gly397=
ENST00000549940.5:c.1191_1192delinsGC	ENSP00000449150.1:p.Gly397=
NM_024312.4:c.1191_1192delinsGC	NP_077288.2:p.Gly397=
XM_006719593.2:c.1191_1192delinsGC	XP_006719656.1:p.Gly397=
XM_011538731.1:c.1110_1111delinsGC	XP_011537033.1:p.Gly370=
XM_006719593.3:c.1191_1192delinsGC	XP_006719656.1:p.Gly397=
XM_011538731.2:c.1110_1111delinsGC	XP_011537033.1:p.Gly370=
XM_017019961.1:c.975_976delinsGC	XP_016875450.1:p.Gly325=
XM_017019962.2:c.-37_-36delinsGC	XP_016875451.1:n.-37_-36delinsGC
NM_024312.5:c.1191_1192delinsGC MANE Select	NP_077288.2:p.Gly397=