Canonical Allele Identifier: CA344272
Community Standard Title: NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865LysfsTer3)
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764325_101764326insC , CM000674.2:g.101764325_101764326insC GRCh38
NC_000012.11:g.102158103_102158104insC , CM000674.1:g.102158103_102158104insC GRCh37
NC_000012.10:g.100682234_100682235insC NCBI36
NG_021243.1:g.71542_71543insG

Transcript Alleles

HGVS Amino-acid Change
NM_024312.5:c.2591_2592insG MANE Select NP_077288.2:p.Asn865LysfsTer3
ENST00000299314.12:c.2591_2592insG MANE Select ENSP00000299314.7:p.Asn865LysfsTer3
NM_024312.4:c.2591_2592insG NP_077288.2:p.Asn865LysfsTer3
ENST00000299314.11:c.2591_2592insG ENSP00000299314.7:p.Asn865LysfsTer3
XM_006719593.2:c.2591_2592insG XP_006719656.1:p.Asn865LysfsTer3
XM_006719593.3:c.2591_2592insG XP_006719656.1:p.Asn865LysfsTer3
XM_011538731.1:c.2510_2511insG XP_011537033.1:p.Asn838LysfsTer3
XM_011538731.2:c.2510_2511insG XP_011537033.1:p.Asn838LysfsTer3
XM_017019961.1:c.2375_2376insG XP_016875450.1:p.Asn793LysfsTer3
XM_017019962.2:c.1364_1365insG XP_016875451.1:p.Asn456LysfsTer3
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