Canonical Allele Identifier: CA343399
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101757223dup , CM000674.2:g.101757223dup GRCh38
NC_000012.11:g.102151001dup , CM000674.1:g.102151001dup GRCh37
NC_000012.10:g.100675132dup NCBI36
NG_021243.1:g.78650dup

Transcript Alleles

HGVS Amino-acid Change
NM_024312.5:c.3428dup MANE Select NP_077288.2:p.Asn1143LysfsTer3
ENST00000299314.12:c.3428dup MANE Select ENSP00000299314.7:p.Asn1143LysfsTer3
NM_024312.4:c.3428dup NP_077288.2:p.Asn1143LysfsTer3
ENST00000299314.11:c.3428dup ENSP00000299314.7:p.Asn1143LysfsTer3
ENST00000549194.1:n.294dup
ENST00000549738.5:c.179dup ENSP00000450161.1:p.Asn60LysfsTer3
ENST00000550718.1:c.240dup
XM_006719593.2:c.3428dup XP_006719656.1:p.Asn1143LysfsTer3
XM_006719593.3:c.3428dup XP_006719656.1:p.Asn1143LysfsTer3
XM_011538731.1:c.3347dup XP_011537033.1:p.Asn1116LysfsTer3
XM_011538731.2:c.3347dup XP_011537033.1:p.Asn1116LysfsTer3
XM_017019961.1:c.3212dup XP_016875450.1:p.Asn1071LysfsTer3
XM_017019962.2:c.2201dup XP_016875451.1:p.Asn734LysfsTer3
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