Canonical Allele Identifier: CA645557531
Community Standard Title: NM_002520.7(NPM1):c.860_861insTTGC (p.Trp288CysfsTer12)
Gene: NPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171410540_171410541insTTGC , CM000667.2:g.171410540_171410541insTTGC GRCh38
NC_000005.9:g.170837544_170837545insTTGC , CM000667.1:g.170837544_170837545insTTGC GRCh37
NC_000005.8:g.170770149_170770150insTTGC NCBI36
NG_016018.1:g.27837_27838insTTGC , LRG_458:g.27837_27838insTTGC

Transcript Alleles

HGVS Amino-acid Change
NM_002520.7:c.860_861insTTGC MANE Select NP_002511.1:p.Trp288CysfsTer12
ENST00000296930.10:c.860_861insTTGC MANE Select ENSP00000296930.5:p.Trp288CysfsTer12
NM_001355006.1:c.860_861insTTGC NP_001341935.1:p.Trp288CysfsTer12
NM_001355006.2:c.860_861insTTGC NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.1:c.668_669insTTGC NP_001341936.1:p.Trp224CysfsTer12
NM_001355007.2:c.668_669insTTGC NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.1:c.479_480insTTGC NP_001341939.1:p.Trp161CysfsTer12
NM_001355010.2:c.479_480insTTGC NP_001341939.1:p.Trp161CysfsTer12
NM_002520.6:c.860_861insTTGC , LRG_458t1:c.860_861insTTGC NP_002511.1:p.Trp288CysfsTer12
NM_199185.3:c.773_774insTTGC NP_954654.1:p.Trp259CysfsTer12
NM_199185.4:c.773_774insTTGC NP_954654.1:p.Trp259CysfsTer12
NR_149149.1:n.977_978insTTGC
NR_149149.2:n.832_833insTTGC
ENST00000296930.9:c.860_861insTTGC ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000351986.10:c.773_774insTTGC ENSP00000341168.6:p.Trp259CysfsTer12
ENST00000517671.5:c.860_861insTTGC ENSP00000428755.1:p.Trp288CysfsTer12
ENST00000518587.2:n.1054_1055insTTGC
ENST00000521260.2:n.1238_1239insTTGC
ENST00000521672.6:c.668_669insTTGC ENSP00000429485.2:p.Trp224CysfsTer12
ENST00000524204.1:n.296_297insTTGC
ENST00000676504.1:n.1606_1607insTTGC
ENST00000676589.1:c.947_948insTTGC ENSP00000503283.1:p.Trp317CysfsTer12
ENST00000676613.1:c.*1607_*1608insTTGC ENSP00000503767.1:n.*1607_*1608insTTGC
ENST00000676625.1:n.3277_3278insTTGC
ENST00000677297.1:c.347_348insTTGC ENSP00000504016.1:p.Trp117CysfsTer12
ENST00000677325.1:c.668_669insTTGC ENSP00000503781.1:p.Trp224CysfsTer12
ENST00000677357.1:c.893_894insTTGC ENSP00000504740.1:p.Trp299CysfsTer12
ENST00000677467.1:n.2285_2286insTTGC
ENST00000677600.1:n.2178_2179insTTGC
ENST00000677672.1:n.2283_2284insTTGC
ENST00000677682.1:n.2190_2191insTTGC
ENST00000677741.1:n.2126_2127insTTGC
ENST00000677904.1:n.1136_1137insTTGC
ENST00000677907.1:c.581_582insTTGC ENSP00000504308.1:p.Trp195CysfsTer12
ENST00000678186.1:n.2330_2331insTTGC
ENST00000678267.1:c.*1961_*1962insTTGC ENSP00000504107.1:n.*1961_*1962insTTGC
ENST00000678280.1:c.*845_*846insTTGC ENSP00000503235.1:n.*845_*846insTTGC
ENST00000678774.1:c.*336_*337insTTGC ENSP00000503150.1:n.*336_*337insTTGC
ENST00000679190.1:c.*43_*44insTTGC ENSP00000503408.1:n.*43_*44insTTGC
XM_011534564.1:c.668_669insTTGC XP_011532866.1:p.Trp224CysfsTer12