Canonical Allele Identifier: CA343357
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39039
ClinVar RCV Id: RCV000032304
dbSNP Id: rs281864951
MyVariant Identifiers: chr12:g.102190487del (hg19) chr12:g.101796709del (hg38)
PubMed: PMID:19617216 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101796709del , CM000674.2:g.101796709del GRCh38
NC_000012.11:g.102190487del , CM000674.1:g.102190487del GRCh37
NC_000012.10:g.100714618del NCBI36
NG_021243.1:g.39159del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.171del MANE Select ENSP00000299314.7:p.Asp58ThrfsTer25
ENST00000647144.1:n.291del
ENST00000299314.11:c.171del ENSP00000299314.7:p.Asp58ThrfsTer25
ENST00000392919.4:c.171del ENSP00000376651.4:p.Asp58ThrfsTer13
ENST00000549165.1:c.171del ENSP00000450413.1:p.Asp58ThrfsTer28
ENST00000549940.5:c.171del ENSP00000449150.1:p.Asp58ThrfsTer25
NM_024312.4:c.171del NP_077288.2:p.Asp58ThrfsTer25
XM_006719593.2:c.171del XP_006719656.1:p.Asp58ThrfsTer25
XM_011538731.1:c.90del XP_011537033.1:p.Asp31ThrfsTer25
XM_006719593.3:c.171del XP_006719656.1:p.Asp58ThrfsTer25
XM_011538731.2:c.90del XP_011537033.1:p.Asp31ThrfsTer25
XM_017019961.1:c.-46del XP_016875450.1:n.-46del
XM_017019962.2:c.-1180del XP_016875451.1:n.-1180del
NM_024312.5:c.171del MANE Select NP_077288.2:p.Asp58ThrfsTer25
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