Canonical Allele Identifier: CA16611841
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 407362
dbSNP Id: rs1060501492

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177135983_177135984del , CM000667.2:g.177135983_177135984del GRCh38
NC_000005.9:g.176562984_176562985del , CM000667.1:g.176562984_176562985del GRCh37
NC_000005.8:g.176495590_176495591del NCBI36
NG_009821.1:g.7905_7906del , LRG_512:g.7905_7906del

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.7_8del ENSP00000423372.3:p.Glu3IlefsTer19
ENST00000347982.9:c.7_8del ENSP00000343209.5:p.Glu3IlefsTer19
ENST00000354179.9:c.7_8del ENSP00000346111.5:p.Glu3IlefsTer19
ENST00000508896.6:c.7_8del ENSP00000423372.2:p.Glu3IlefsTer19
ENST00000510954.6:n.256_257del
ENST00000511258.6:c.7_8del ENSP00000426428.2:p.Glu3IlefsTer16
ENST00000638627.3:c.-212_-211del ENSP00000492679.3:n.-212_-211del
ENST00000644863.2:c.-428_-427del ENSP00000496157.2:n.-428_-427del
ENST00000685206.1:n.108_109del
ENST00000686993.1:c.7_8del ENSP00000510020.1:p.Glu3IlefsTer19
ENST00000687453.1:c.880_881del ENSP00000508426.1:p.Glu294IlefsTer23
ENST00000688613.1:n.277_278del
ENST00000689326.1:c.880_881del ENSP00000509594.1:p.Glu294IlefsTer19
ENST00000689345.1:c.7_8del ENSP00000509711.1:p.Glu3IlefsTer19
ENST00000689549.1:n.1027_1028del
ENST00000439151.7:c.880_881del MANE Select ENSP00000395929.2:p.Glu294IlefsTer19
ENST00000638627.2:c.73_74del ENSP00000492679.2:p.Glu25IlefsTer16
ENST00000644863.1:c.73_74del ENSP00000496157.1:p.Glu25IlefsTer16
ENST00000347982.8:c.73_74del ENSP00000343209.4:p.Glu25IlefsTer19
ENST00000354179.8:c.73_74del ENSP00000346111.4:p.Glu25IlefsTer19
ENST00000439151.6:c.880_881del ENSP00000395929.2:p.Glu294IlefsTer19
ENST00000508896.5:c.73_74del ENSP00000423372.1:p.Glu25IlefsTer19
ENST00000510954.5:c.73_74del ENSP00000423982.1:p.Glu25IlefsTer19
ENST00000511258.5:c.73_74del ENSP00000426428.1:p.Glu25IlefsTer16
ENST00000602285.1:n.1052_1053del
NM_022455.4:c.880_881del , LRG_512t1:c.880_881del NP_071900.2:p.Glu294IlefsTer19
NM_172349.2:c.73_74del NP_758859.1:p.Glu25IlefsTer19
XM_005265959.1:c.880_881del XP_005266016.1:p.Glu294IlefsTer19
XM_005265960.1:c.73_74del XP_005266017.1:p.Glu25IlefsTer19
XM_005265961.1:c.73_74del XP_005266018.1:p.Glu25IlefsTer19
XM_011534610.1:c.880_881del XP_011532912.1:p.Glu294IlefsTer19
XM_011534611.1:c.880_881del XP_011532913.1:p.Glu294IlefsTer19
XM_011534612.1:c.460_461del XP_011532914.1:p.Glu154IlefsTer19
XM_011534614.1:c.880_881del XP_011532916.1:p.Glu294IlefsTer19
XM_011534615.1:c.880_881del XP_011532917.1:p.Glu294IlefsTer19
XM_011534616.1:c.880_881del XP_011532918.1:p.Glu294IlefsTer19
NM_001365684.1:c.73_74del NP_001352613.1:p.Glu25IlefsTer19
XM_024446150.1:c.880_881del XP_024301918.1:p.Glu294IlefsTer19
XM_024446151.1:c.880_881del XP_024301919.1:p.Glu294IlefsTer19
XM_024446152.1:c.880_881del XP_024301920.1:p.Glu294IlefsTer19
XM_024446153.1:c.880_881del XP_024301921.1:p.Glu294IlefsTer19
XM_024446154.1:c.460_461del XP_024301922.1:p.Glu154IlefsTer19
XM_024446155.1:c.73_74del XP_024301923.1:p.Glu25IlefsTer19
XM_024446156.1:c.73_74del XP_024301924.1:p.Glu25IlefsTer19
XM_024446158.1:c.73_74del XP_024301926.1:p.Glu25IlefsTer19
XM_024446160.1:c.880_881del XP_024301928.1:p.Glu294IlefsTer19
XM_024446161.1:c.880_881del XP_024301929.1:p.Glu294IlefsTer19
NM_022455.5:c.880_881del MANE Select NP_071900.2:p.Glu294IlefsTer19
NM_172349.3:c.73_74del NP_758859.1:p.Glu25IlefsTer19