Canonical Allele Identifier: CA645557533
Community Standard Title: NM_002520.7(NPM1):c.860_861insATGC (p.Trp288CysfsTer12)
Gene: NPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171410540_171410541insATGC , CM000667.2:g.171410540_171410541insATGC GRCh38
NC_000005.9:g.170837544_170837545insATGC , CM000667.1:g.170837544_170837545insATGC GRCh37
NC_000005.8:g.170770149_170770150insATGC NCBI36
NG_016018.1:g.27837_27838insATGC , LRG_458:g.27837_27838insATGC

Transcript Alleles

HGVS Amino-acid Change
NM_002520.7:c.860_861insATGC MANE Select NP_002511.1:p.Trp288CysfsTer12
ENST00000296930.10:c.860_861insATGC MANE Select ENSP00000296930.5:p.Trp288CysfsTer12
NM_001355006.1:c.860_861insATGC NP_001341935.1:p.Trp288CysfsTer12
NM_001355006.2:c.860_861insATGC NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.1:c.668_669insATGC NP_001341936.1:p.Trp224CysfsTer12
NM_001355007.2:c.668_669insATGC NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.1:c.479_480insATGC NP_001341939.1:p.Trp161CysfsTer12
NM_001355010.2:c.479_480insATGC NP_001341939.1:p.Trp161CysfsTer12
NM_002520.6:c.860_861insATGC , LRG_458t1:c.860_861insATGC NP_002511.1:p.Trp288CysfsTer12
NM_199185.3:c.773_774insATGC NP_954654.1:p.Trp259CysfsTer12
NM_199185.4:c.773_774insATGC NP_954654.1:p.Trp259CysfsTer12
NR_149149.1:n.977_978insATGC
NR_149149.2:n.832_833insATGC
ENST00000296930.9:c.860_861insATGC ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000351986.10:c.773_774insATGC ENSP00000341168.6:p.Trp259CysfsTer12
ENST00000517671.5:c.860_861insATGC ENSP00000428755.1:p.Trp288CysfsTer12
ENST00000518587.2:n.1054_1055insATGC
ENST00000521260.2:n.1238_1239insATGC
ENST00000521672.6:c.668_669insATGC ENSP00000429485.2:p.Trp224CysfsTer12
ENST00000524204.1:n.296_297insATGC
ENST00000676504.1:n.1606_1607insATGC
ENST00000676589.1:c.947_948insATGC ENSP00000503283.1:p.Trp317CysfsTer12
ENST00000676613.1:c.*1607_*1608insATGC ENSP00000503767.1:n.*1607_*1608insATGC
ENST00000676625.1:n.3277_3278insATGC
ENST00000677297.1:c.347_348insATGC ENSP00000504016.1:p.Trp117CysfsTer12
ENST00000677325.1:c.668_669insATGC ENSP00000503781.1:p.Trp224CysfsTer12
ENST00000677357.1:c.893_894insATGC ENSP00000504740.1:p.Trp299CysfsTer12
ENST00000677467.1:n.2285_2286insATGC
ENST00000677600.1:n.2178_2179insATGC
ENST00000677672.1:n.2283_2284insATGC
ENST00000677682.1:n.2190_2191insATGC
ENST00000677741.1:n.2126_2127insATGC
ENST00000677904.1:n.1136_1137insATGC
ENST00000677907.1:c.581_582insATGC ENSP00000504308.1:p.Trp195CysfsTer12
ENST00000678186.1:n.2330_2331insATGC
ENST00000678267.1:c.*1961_*1962insATGC ENSP00000504107.1:n.*1961_*1962insATGC
ENST00000678280.1:c.*845_*846insATGC ENSP00000503235.1:n.*845_*846insATGC
ENST00000678774.1:c.*336_*337insATGC ENSP00000503150.1:n.*336_*337insATGC
ENST00000679190.1:c.*43_*44insATGC ENSP00000503408.1:n.*43_*44insATGC
XM_011534564.1:c.668_669insATGC XP_011532866.1:p.Trp224CysfsTer12