Canonical Allele Identifier: CA343341
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39027
ClinVar RCV Id: RCV000032292
dbSNP Id: rs281864948
MyVariant Identifiers: chr12:g.102190537del (hg19) chr12:g.101796759del (hg38)
PubMed: PMID:19659762 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101796760del , CM000674.2:g.101796760del GRCh38
NC_000012.11:g.102190538del , CM000674.1:g.102190538del GRCh37
NC_000012.10:g.100714669del NCBI36
NG_021243.1:g.39109del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.121del MANE Select ENSP00000299314.7:p.Val41PhefsTer?
ENST00000647144.1:n.241del
ENST00000299314.11:c.121del ENSP00000299314.7:p.Val41PhefsTer?
ENST00000392919.4:c.121del ENSP00000376651.4:p.Val41PhefsTer30
ENST00000549165.1:c.121del ENSP00000450413.1:p.Val41PhefsTer?
ENST00000549940.5:c.121del ENSP00000449150.1:p.Val41PhefsTer?
NM_024312.4:c.121del NP_077288.2:p.Val41PhefsTer?
XM_006719593.2:c.121del XP_006719656.1:p.Val41PhefsTer?
XM_011538731.1:c.40del XP_011537033.1:p.Val14PhefsTer?
XM_006719593.3:c.121del XP_006719656.1:p.Val41PhefsTer?
XM_011538731.2:c.40del XP_011537033.1:p.Val14PhefsTer?
XM_017019961.1:c.-96del XP_016875450.1:n.-96del
XM_017019962.2:c.-1230del XP_016875451.1:n.-1230del
NM_024312.5:c.121del MANE Select NP_077288.2:p.Val41PhefsTer?
Search 100 bp 5'
Search 100 bp 3'