Canonical Allele Identifier: CA2573332443
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753515_101753518dup , CM000674.2:g.101753515_101753518dup GRCh38
NC_000012.11:g.102147293_102147296dup , CM000674.1:g.102147293_102147296dup GRCh37
NC_000012.10:g.100671424_100671427dup NCBI36
NG_021243.1:g.82350_82353dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3456_3459dup MANE Select ENSP00000299314.7:p.Ile1154GlnfsTer3
ENST00000299314.11:c.3456_3459dup ENSP00000299314.7:p.Ile1154GlnfsTer3
ENST00000549738.5:c.354_357dup ENSP00000450161.1:n.354_357dup
NM_024312.4:c.3456_3459dup NP_077288.2:p.Ile1154GlnfsTer3
XM_011538731.1:c.3375_3378dup XP_011537033.1:p.Ile1127GlnfsTer3
XM_011538731.2:c.3375_3378dup XP_011537033.1:p.Ile1127GlnfsTer3
XM_017019961.1:c.3240_3243dup XP_016875450.1:p.Ile1082GlnfsTer3
XM_017019962.2:c.2229_2232dup XP_016875451.1:p.Ile745GlnfsTer3
NM_024312.5:c.3456_3459dup MANE Select NP_077288.2:p.Ile1154GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'