Canonical Allele Identifier: CA343372
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39051
ClinVar RCV Id: RCV000032316
dbSNP Id: rs281864993
MyVariant Identifiers: chr12:g.102158273del (hg19) chr12:g.101764495del (hg38)
PubMed: PMID:20301728 PMID:21416587
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764498del , CM000674.2:g.101764498del GRCh38
NC_000012.11:g.102158276del , CM000674.1:g.102158276del GRCh37
NC_000012.10:g.100682407del NCBI36
NG_021243.1:g.71373del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.2422del MANE Select ENSP00000299314.7:p.Leu808TrpfsTer19
ENST00000299314.11:c.2422del ENSP00000299314.7:p.Leu808TrpfsTer19
NM_024312.4:c.2422del NP_077288.2:p.Leu808TrpfsTer19
XM_006719593.2:c.2422del XP_006719656.1:p.Leu808TrpfsTer19
XM_011538731.1:c.2341del XP_011537033.1:p.Leu781TrpfsTer19
XM_006719593.3:c.2422del XP_006719656.1:p.Leu808TrpfsTer19
XM_011538731.2:c.2341del XP_011537033.1:p.Leu781TrpfsTer19
XM_017019961.1:c.2206del XP_016875450.1:p.Leu736TrpfsTer19
XM_017019962.2:c.1195del XP_016875451.1:p.Leu399TrpfsTer19
NM_024312.5:c.2422del MANE Select NP_077288.2:p.Leu808TrpfsTer19
Search 100 bp 5'
Search 100 bp 3'