Canonical Allele Identifier: CA280200

Gene: NPM1

Linked Data

• ClinVar Variation Id: 13999
• ClinVar RCV Id: RCV000015036
• dbSNP Id: rs1554138188
• COSMIC: COSM17571 ; COSM158600
• MyVariant Identifiers: chr5:g.170837547_170837548insCATG (hg19) ; chr5:g.171410543_171410544insCATG (hg38)
• PubMed: PMID:15659725

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171410543_171410544insCATG , CM000667.2:g.171410543_171410544insCATG	GRCh38
NC_000005.9:g.170837547_170837548insCATG , CM000667.1:g.170837547_170837548insCATG	GRCh37
NC_000005.8:g.170770152_170770153insCATG	NCBI36
NG_016018.1:g.27840_27841insCATG , LRG_458:g.27840_27841insCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000296930.10:c.863_864insCATG MANE Select	ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000518587.2:n.1057_1058insCATG
ENST00000521260.2:n.1241_1242insCATG
ENST00000521672.6:c.671_672insCATG	ENSP00000429485.2:p.Trp224CysfsTer12
ENST00000676504.1:n.1609_1610insCATG
ENST00000676589.1:c.950_951insCATG	ENSP00000503283.1:p.Trp317CysfsTer12
ENST00000676613.1:c.*1610_*1611insCATG	ENSP00000503767.1:n.*1610_*1611insCATG
ENST00000676625.1:n.3280_3281insCATG
ENST00000677297.1:c.350_351insCATG	ENSP00000504016.1:p.Trp117CysfsTer12
ENST00000677325.1:c.671_672insCATG	ENSP00000503781.1:p.Trp224CysfsTer12
ENST00000677357.1:c.896_897insCATG	ENSP00000504740.1:p.Trp299CysfsTer12
ENST00000677467.1:n.2288_2289insCATG
ENST00000677600.1:n.2181_2182insCATG
ENST00000677672.1:n.2286_2287insCATG
ENST00000677682.1:n.2193_2194insCATG
ENST00000677741.1:n.2129_2130insCATG
ENST00000677904.1:n.1139_1140insCATG
ENST00000677907.1:c.584_585insCATG	ENSP00000504308.1:p.Trp195CysfsTer12
ENST00000678186.1:n.2333_2334insCATG
ENST00000678267.1:c.*1964_*1965insCATG	ENSP00000504107.1:n.*1964_*1965insCATG
ENST00000678280.1:c.*848_*849insCATG	ENSP00000503235.1:n.*848_*849insCATG
ENST00000678774.1:c.*339_*340insCATG	ENSP00000503150.1:n.*339_*340insCATG
ENST00000679190.1:c.*46_*47insCATG	ENSP00000503408.1:n.*46_*47insCATG
ENST00000296930.9:c.863_864insCATG	ENSP00000296930.5:p.Trp288CysfsTer12
ENST00000351986.10:c.776_777insCATG	ENSP00000341168.6:p.Trp259CysfsTer12
ENST00000517671.5:c.863_864insCATG	ENSP00000428755.1:p.Trp288CysfsTer12
ENST00000524204.1:n.299_300insCATG
NM_002520.6:c.863_864insCATG , LRG_458t1:c.863_864insCATG	NP_002511.1:p.Trp288CysfsTer12
NM_199185.3:c.776_777insCATG	NP_954654.1:p.Trp259CysfsTer12
XM_011534564.1:c.671_672insCATG	XP_011532866.1:p.Trp224CysfsTer12
NM_001355006.1:c.863_864insCATG	NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.1:c.671_672insCATG	NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.1:c.482_483insCATG	NP_001341939.1:p.Trp161CysfsTer12
NR_149149.1:n.980_981insCATG
NM_001355006.2:c.863_864insCATG	NP_001341935.1:p.Trp288CysfsTer12
NM_001355007.2:c.671_672insCATG	NP_001341936.1:p.Trp224CysfsTer12
NM_001355010.2:c.482_483insCATG	NP_001341939.1:p.Trp161CysfsTer12
NM_002520.7:c.863_864insCATG MANE Select	NP_002511.1:p.Trp288CysfsTer12
NM_199185.4:c.776_777insCATG	NP_954654.1:p.Trp259CysfsTer12
NR_149149.2:n.835_836insCATG