Canonical Allele Identifier: CA343400
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101788571_101788572del , CM000674.2:g.101788571_101788572del GRCh38
NC_000012.11:g.102182349_102182350del , CM000674.1:g.102182349_102182350del GRCh37
NC_000012.10:g.100706480_100706481del NCBI36
NG_021243.1:g.47299_47300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.344_345del MANE Select ENSP00000299314.7:p.Thr115AsnfsTer5
ENST00000299314.11:c.344_345del ENSP00000299314.7:p.Thr115AsnfsTer5
ENST00000549940.5:c.344_345del ENSP00000449150.1:p.Thr115AsnfsTer5
ENST00000550352.1:n.138_139del
NM_024312.4:c.344_345del NP_077288.2:p.Thr115AsnfsTer5
XM_006719593.2:c.344_345del XP_006719656.1:p.Thr115AsnfsTer5
XM_011538731.1:c.263_264del XP_011537033.1:p.Thr88AsnfsTer5
XM_006719593.3:c.344_345del XP_006719656.1:p.Thr115AsnfsTer5
XM_011538731.2:c.263_264del XP_011537033.1:p.Thr88AsnfsTer5
XM_017019961.1:c.128_129del XP_016875450.1:p.Thr43AsnfsTer5
XM_017019962.2:c.-1007_-1006del XP_016875451.1:n.-1007_-1006del
NM_024312.5:c.344_345del MANE Select NP_077288.2:p.Thr115AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'