Canonical Allele Identifier: CA343080
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 38428
ClinVar RCV Id: RCV000031985
dbSNP Id: rs281865039
PubMed: PMID:16200072 PMID:20301728 PMID:20301730
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753407dup , CM000674.2:g.101753407dup GRCh38
NC_000012.11:g.102147185dup , CM000674.1:g.102147185dup GRCh37
NC_000012.10:g.100671316dup NCBI36
NG_021243.1:g.82463dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3569dup MANE Select ENSP00000299314.7:p.Asn1190LysfsTer8
ENST00000299314.11:c.3569dup ENSP00000299314.7:p.Asn1190LysfsTer8
ENST00000549738.5:c.467dup ENSP00000450161.1:n.467dup
NM_024312.4:c.3569dup NP_077288.2:p.Asn1190LysfsTer8
XM_011538731.1:c.3488dup XP_011537033.1:p.Asn1163LysfsTer8
XM_011538731.2:c.3488dup XP_011537033.1:p.Asn1163LysfsTer8
XM_017019961.1:c.3353dup XP_016875450.1:p.Asn1118LysfsTer8
XM_017019962.2:c.2342dup XP_016875451.1:p.Asn781LysfsTer8
NM_024312.5:c.3569dup MANE Select NP_077288.2:p.Asn1190LysfsTer8
Search 100 bp 5'
Search 100 bp 3'