Canonical Allele Identifier: CA2058958001

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770486_101770487delinsTC , CM000674.2:g.101770486_101770487delinsTC	GRCh38
NC_000012.11:g.102164264_102164265delinsTC , CM000674.1:g.102164264_102164265delinsTC	GRCh37
NC_000012.10:g.100688395_100688396delinsTC	NCBI36
NG_021243.1:g.65381_65382delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1032_1033delinsGA MANE Select	ENSP00000299314.7:p.Arg344=
ENST00000299314.11:c.1032_1033delinsGA	ENSP00000299314.7:p.Arg344=
ENST00000549940.5:c.1032_1033delinsGA	ENSP00000449150.1:p.Arg344=
NM_024312.4:c.1032_1033delinsGA	NP_077288.2:p.Arg344=
XM_006719593.2:c.1032_1033delinsGA	XP_006719656.1:p.Arg344=
XM_011538731.1:c.951_952delinsGA	XP_011537033.1:p.Arg317=
XM_006719593.3:c.1032_1033delinsGA	XP_006719656.1:p.Arg344=
XM_011538731.2:c.951_952delinsGA	XP_011537033.1:p.Arg317=
XM_017019961.1:c.816_817delinsGA	XP_016875450.1:p.Arg272=
XM_017019962.2:c.-196_-195delinsGA	XP_016875451.1:n.-196_-195delinsGA
NM_024312.5:c.1032_1033delinsGA MANE Select	NP_077288.2:p.Arg344=