Canonical Allele Identifier: CA343413
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39086
dbSNP Id: rs281864963

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101780274_101780277del , CM000674.2:g.101780274_101780277del GRCh38
NC_000012.11:g.102174052_102174055del , CM000674.1:g.102174052_102174055del GRCh37
NC_000012.10:g.100698183_100698186del NCBI36
NG_021243.1:g.55593_55596del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.648_651del MANE Select ENSP00000299314.7:p.Glu217SerfsTer4
ENST00000299314.11:c.648_651del ENSP00000299314.7:p.Glu217SerfsTer4
ENST00000549940.5:c.648_651del ENSP00000449150.1:p.Glu217SerfsTer4
ENST00000552681.1:c.282_285del ENSP00000449217.1:p.Glu95SerfsTer4
NM_024312.4:c.648_651del NP_077288.2:p.Glu217SerfsTer4
XM_006719593.2:c.648_651del XP_006719656.1:p.Glu217SerfsTer4
XM_011538731.1:c.567_570del XP_011537033.1:p.Glu190SerfsTer4
XM_006719593.3:c.648_651del XP_006719656.1:p.Glu217SerfsTer4
XM_011538731.2:c.567_570del XP_011537033.1:p.Glu190SerfsTer4
XM_017019961.1:c.432_435del XP_016875450.1:p.Glu145SerfsTer4
XM_017019962.2:c.-703_-700del XP_016875451.1:n.-703_-700del
NM_024312.5:c.648_651del MANE Select NP_077288.2:p.Glu217SerfsTer4