Canonical Allele Identifier: CA343401
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753533_101753536del , CM000674.2:g.101753533_101753536del GRCh38
NC_000012.11:g.102147311_102147314del , CM000674.1:g.102147311_102147314del GRCh37
NC_000012.10:g.100671442_100671445del NCBI36
NG_021243.1:g.82337_82340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3443_3446del MANE Select ENSP00000299314.7:p.Val1148AlafsTer2
ENST00000299314.11:c.3443_3446del ENSP00000299314.7:p.Val1148AlafsTer2
ENST00000549738.5:c.341_344del ENSP00000450161.1:n.341_344del
NM_024312.4:c.3443_3446del NP_077288.2:p.Val1148AlafsTer2
XM_011538731.1:c.3362_3365del XP_011537033.1:p.Val1121AlafsTer2
XM_011538731.2:c.3362_3365del XP_011537033.1:p.Val1121AlafsTer2
XM_017019961.1:c.3227_3230del XP_016875450.1:p.Val1076AlafsTer2
XM_017019962.2:c.2216_2219del XP_016875451.1:p.Val739AlafsTer2
NM_024312.5:c.3443_3446del MANE Select NP_077288.2:p.Val1148AlafsTer2
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