Canonical Allele Identifier: CA280202
Gene: NPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14001
ClinVar RCV Id: RCV000015038
dbSNP Id: rs1554138189

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171410543_171410544insCCTG , CM000667.2:g.171410543_171410544insCCTG GRCh38
NC_000005.9:g.170837547_170837548insCCTG , CM000667.1:g.170837547_170837548insCCTG GRCh37
NC_000005.8:g.170770152_170770153insCCTG NCBI36
NG_016018.1:g.27840_27841insCCTG , LRG_458:g.27840_27841insCCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000296930.10:c.863_864insCCTG MANE Select ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000518587.2:n.1057_1058insCCTG
ENST00000521260.2:n.1241_1242insCCTG
ENST00000521672.6:c.671_672insCCTG ENSP00000429485.2:p.Trp224CysfsTer12
ENST00000676504.1:n.1609_1610insCCTG
ENST00000676589.1:c.950_951insCCTG ENSP00000503283.1:p.Trp317CysfsTer12
ENST00000676613.1:c.*1610_*1611insCCTG ENSP00000503767.1:n.*1610_*1611insCCTG
ENST00000676625.1:n.3280_3281insCCTG
ENST00000677297.1:c.350_351insCCTG ENSP00000504016.1:p.Trp117CysfsTer12
ENST00000677325.1:c.671_672insCCTG ENSP00000503781.1:p.Trp224CysfsTer12
ENST00000677357.1:c.896_897insCCTG ENSP00000504740.1:p.Trp299CysfsTer12
ENST00000677467.1:n.2288_2289insCCTG
ENST00000677600.1:n.2181_2182insCCTG
ENST00000677672.1:n.2286_2287insCCTG
ENST00000677682.1:n.2193_2194insCCTG
ENST00000677741.1:n.2129_2130insCCTG
ENST00000677904.1:n.1139_1140insCCTG
ENST00000677907.1:c.584_585insCCTG ENSP00000504308.1:p.Trp195CysfsTer12
ENST00000678186.1:n.2333_2334insCCTG
ENST00000678267.1:c.*1964_*1965insCCTG ENSP00000504107.1:n.*1964_*1965insCCTG
ENST00000678280.1:c.*848_*849insCCTG ENSP00000503235.1:n.*848_*849insCCTG
ENST00000678774.1:c.*339_*340insCCTG ENSP00000503150.1:n.*339_*340insCCTG
ENST00000679190.1:c.*46_*47insCCTG ENSP00000503408.1:n.*46_*47insCCTG
ENST00000296930.9:c.863_864insCCTG ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000351986.10:c.776_777insCCTG ENSP00000341168.6:p.Trp259CysfsTer12
ENST00000517671.5:c.863_864insCCTG ENSP00000428755.1:p.Trp288CysfsTer12
ENST00000524204.1:n.299_300insCCTG
NM_002520.6:c.863_864insCCTG , LRG_458t1:c.863_864insCCTG NP_002511.1:p.Trp288CysfsTer12
NM_199185.3:c.776_777insCCTG NP_954654.1:p.Trp259CysfsTer12
XM_011534564.1:c.671_672insCCTG XP_011532866.1:p.Trp224CysfsTer12
NM_001355006.1:c.863_864insCCTG NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.1:c.671_672insCCTG NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.1:c.482_483insCCTG NP_001341939.1:p.Trp161CysfsTer12
NR_149149.1:n.980_981insCCTG
NM_001355006.2:c.863_864insCCTG NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.2:c.671_672insCCTG NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.2:c.482_483insCCTG NP_001341939.1:p.Trp161CysfsTer12
NM_002520.7:c.863_864insCCTG MANE Select NP_002511.1:p.Trp288CysfsTer12
NM_199185.4:c.776_777insCCTG NP_954654.1:p.Trp259CysfsTer12
NR_149149.2:n.835_836insCCTG