Canonical Allele Identifier: CA343360
Community Standard Title: NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654ProfsTer2)
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764960_101764963del , CM000674.2:g.101764960_101764963del GRCh38
NC_000012.11:g.102158738_102158741del , CM000674.1:g.102158738_102158741del GRCh37
NC_000012.10:g.100682869_100682872del NCBI36
NG_021243.1:g.70910_70913del

Transcript Alleles

HGVS Amino-acid Change
NM_024312.5:c.1959_1962del MANE Select NP_077288.2:p.Ser654ProfsTer2
ENST00000299314.12:c.1959_1962del MANE Select ENSP00000299314.7:p.Ser654ProfsTer2
NM_024312.4:c.1959_1962del NP_077288.2:p.Ser654ProfsTer2
ENST00000299314.11:c.1959_1962del ENSP00000299314.7:p.Ser654ProfsTer2
XM_006719593.2:c.1959_1962del XP_006719656.1:p.Ser654ProfsTer2
XM_006719593.3:c.1959_1962del XP_006719656.1:p.Ser654ProfsTer2
XM_011538731.1:c.1878_1881del XP_011537033.1:p.Ser627ProfsTer2
XM_011538731.2:c.1878_1881del XP_011537033.1:p.Ser627ProfsTer2
XM_017019961.1:c.1743_1746del XP_016875450.1:p.Ser582ProfsTer2
XM_017019962.2:c.732_735del XP_016875451.1:p.Ser245ProfsTer2
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