Canonical Allele Identifier: CA343415
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs281864965
MyVariant Identifiers: chr12:g.102173942_102173946del (hg19) chr12:g.101780164_101780168del (hg38)
PubMed: PMID:19634183 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101780165_101780169del , CM000674.2:g.101780165_101780169del GRCh38
NC_000012.11:g.102173943_102173947del , CM000674.1:g.102173943_102173947del GRCh37
NC_000012.10:g.100698074_100698078del NCBI36
NG_021243.1:g.55700_55704del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.755_759del MANE Select ENSP00000299314.7:p.Ser252Ter
ENST00000299314.11:c.755_759del ENSP00000299314.7:p.Ser252Ter
ENST00000549940.5:c.755_759del ENSP00000449150.1:p.Ser252Ter
ENST00000552681.1:c.389_393del ENSP00000449217.1:p.Ser130Ter
NM_024312.4:c.755_759del NP_077288.2:p.Ser252Ter
XM_006719593.2:c.755_759del XP_006719656.1:p.Ser252Ter
XM_011538731.1:c.674_678del XP_011537033.1:p.Ser225Ter
XM_006719593.3:c.755_759del XP_006719656.1:p.Ser252Ter
XM_011538731.2:c.674_678del XP_011537033.1:p.Ser225Ter
XM_017019961.1:c.539_543del XP_016875450.1:p.Ser180Ter
XM_017019962.2:c.-596_-592del XP_016875451.1:n.-596_-592del
NM_024312.5:c.755_759del MANE Select NP_077288.2:p.Ser252Ter
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