Canonical Allele Identifier: CA343411
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39084
ClinVar RCV Id: RCV000032351
dbSNP Id: rs281864961

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101780566_101780570del , CM000674.2:g.101780566_101780570del GRCh38
NC_000012.11:g.102174344_102174348del , CM000674.1:g.102174344_102174348del GRCh37
NC_000012.10:g.100698475_100698479del NCBI36
NG_021243.1:g.55300_55304del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.625_629del MANE Select ENSP00000299314.7:p.Arg209LeufsTer6
ENST00000299314.11:c.625_629del ENSP00000299314.7:p.Arg209LeufsTer6
ENST00000549940.5:c.625_629del ENSP00000449150.1:p.Arg209LeufsTer6
ENST00000552681.1:c.259_263del ENSP00000449217.1:p.Arg87LeufsTer6
NM_024312.4:c.625_629del NP_077288.2:p.Arg209LeufsTer6
XM_006719593.2:c.625_629del XP_006719656.1:p.Arg209LeufsTer6
XM_011538731.1:c.544_548del XP_011537033.1:p.Arg182LeufsTer6
XM_006719593.3:c.625_629del XP_006719656.1:p.Arg209LeufsTer6
XM_011538731.2:c.544_548del XP_011537033.1:p.Arg182LeufsTer6
XM_017019961.1:c.409_413del XP_016875450.1:p.Arg137LeufsTer6
XM_017019962.2:c.-726_-722del XP_016875451.1:n.-726_-722del
NM_024312.5:c.625_629del MANE Select NP_077288.2:p.Arg209LeufsTer6