Canonical Allele Identifier: CA2058956973

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768054_101768056delinsTCC , CM000674.2:g.101768054_101768056delinsTCC	GRCh38
NC_000012.11:g.102161832_102161834delinsTCC , CM000674.1:g.102161832_102161834delinsTCC	GRCh37
NC_000012.10:g.100685963_100685965delinsTCC	NCBI36
NG_021243.1:g.67812_67814delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1389_1391delinsGGA MANE Select	ENSP00000299314.7:p.Trp463=
ENST00000299314.11:c.1389_1391delinsGGA	ENSP00000299314.7:p.Trp463=
ENST00000549940.5:c.1389_1391delinsGGA	ENSP00000449150.1:p.Trp463=
ENST00000552009.1:n.48_50delinsGGA
NM_024312.4:c.1389_1391delinsGGA	NP_077288.2:p.Trp463=
XM_006719593.2:c.1389_1391delinsGGA	XP_006719656.1:p.Trp463=
XM_011538731.1:c.1308_1310delinsGGA	XP_011537033.1:p.Trp436=
XM_006719593.3:c.1389_1391delinsGGA	XP_006719656.1:p.Trp463=
XM_011538731.2:c.1308_1310delinsGGA	XP_011537033.1:p.Trp436=
XM_017019961.1:c.1173_1175delinsGGA	XP_016875450.1:p.Trp391=
XM_017019962.2:c.162_164delinsGGA	XP_016875451.1:p.Trp54=
NM_024312.5:c.1389_1391delinsGGA MANE Select	NP_077288.2:p.Trp463=