Canonical Allele Identifier: CA343404
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39077
ClinVar RCV Id: RCV000032343
dbSNP Id: rs281865021
MyVariant Identifiers: chr12:g.102147223_102147229del (hg19) chr12:g.101753445_101753451del (hg38)
PubMed: PMID:19634183 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753448_101753454del , CM000674.2:g.101753448_101753454del GRCh38
NC_000012.11:g.102147226_102147232del , CM000674.1:g.102147226_102147232del GRCh37
NC_000012.10:g.100671357_100671363del NCBI36
NG_021243.1:g.82417_82423del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3523_3529del MANE Select ENSP00000299314.7:p.Met1175ProfsTer?
ENST00000299314.11:c.3523_3529del ENSP00000299314.7:p.Met1175ProfsTer?
ENST00000549738.5:c.421_427del ENSP00000450161.1:n.421_427del
NM_024312.4:c.3523_3529del NP_077288.2:p.Met1175ProfsTer?
XM_011538731.1:c.3442_3448del XP_011537033.1:p.Met1148ProfsTer?
XM_011538731.2:c.3442_3448del XP_011537033.1:p.Met1148ProfsTer?
XM_017019961.1:c.3307_3313del XP_016875450.1:p.Met1103ProfsTer?
XM_017019962.2:c.2296_2302del XP_016875451.1:p.Met766ProfsTer?
NM_024312.5:c.3523_3529del MANE Select NP_077288.2:p.Met1175ProfsTer?
Search 100 bp 5'
Search 100 bp 3'