Canonical Allele Identifier: CA2711096362
Gene: NSD1 HGNC NCBI

Linked Data

dbSNP Id: rs2149757010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177135945_177135946insGGAGCTAATGGCAAGAATGGCGAT , CM000667.2:g.177135945_177135946insGGAGCTAATGGCAAGAATGGCGAT GRCh38
NC_000005.9:g.176562946_176562947insGGAGCTAATGGCAAGAATGGCGAT , CM000667.1:g.176562946_176562947insGGAGCTAATGGCAAGAATGGCGAT GRCh37
NC_000005.8:g.176495552_176495553insGGAGCTAATGGCAAGAATGGCGAT NCBI36
NG_009821.1:g.7867_7868insGGAGCTAATGGCAAGAATGGCGAT , LRG_512:g.7867_7868insGGAGCTAATGGCAAGAATGGCGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000423372.3:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000347982.9:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000343209.5:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000354179.9:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000346111.5:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000508896.6:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000423372.2:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000510954.6:n.218_219insGGAGCTAATGGCAAGAATGGCGAT
ENST00000511258.6:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000426428.2:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000638627.3:c.-250_-249insGGAGCTAATGGCAAGAATGGCGAT ENSP00000492679.3:n.-250_-249insGGAGCTAATGGCAAGAATGGCGAT
ENST00000644863.2:c.-466_-465insGGAGCTAATGGCAAGAATGGCGAT ENSP00000496157.2:n.-466_-465insGGAGCTAATGGCAAGAATGGCGAT
ENST00000685206.1:n.70_71insGGAGCTAATGGCAAGAATGGCGAT
ENST00000686993.1:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000510020.1:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000687453.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT ENSP00000508426.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000688613.1:n.239_240insGGAGCTAATGGCAAGAATGGCGAT
ENST00000689326.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT ENSP00000509594.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000689345.1:c.-32_-31insGGAGCTAATGGCAAGAATGGCGAT ENSP00000509711.1:n.-32_-31insGGAGCTAATGGCAAGAATGGCGAT
ENST00000689549.1:n.989_990insGGAGCTAATGGCAAGAATGGCGAT
ENST00000439151.7:c.842_843insGGAGCTAATGGCAAGAATGGCGAT MANE Select ENSP00000395929.2:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000638627.2:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000492679.2:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000644863.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000496157.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000347982.8:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000343209.4:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000354179.8:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000346111.4:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000439151.6:c.842_843insGGAGCTAATGGCAAGAATGGCGAT ENSP00000395929.2:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000508896.5:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000423372.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000510954.5:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000423982.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000511258.5:c.35_36insGGAGCTAATGGCAAGAATGGCGAT ENSP00000426428.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
ENST00000602285.1:n.1014_1015insGGAGCTAATGGCAAGAATGGCGAT
NM_022455.4:c.842_843insGGAGCTAATGGCAAGAATGGCGAT , LRG_512t1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT NP_071900.2:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
NM_172349.2:c.35_36insGGAGCTAATGGCAAGAATGGCGAT NP_758859.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_005265959.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_005266016.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_005265960.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT XP_005266017.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_005265961.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT XP_005266018.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534610.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_011532912.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534611.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_011532913.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534612.1:c.422_423insGGAGCTAATGGCAAGAATGGCGAT XP_011532914.1:p.Asp141delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534614.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_011532916.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534615.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_011532917.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_011534616.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_011532918.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
NM_001365684.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT NP_001352613.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446150.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301918.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446151.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301919.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446152.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301920.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446153.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301921.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446154.1:c.422_423insGGAGCTAATGGCAAGAATGGCGAT XP_024301922.1:p.Asp141delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446155.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT XP_024301923.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446156.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT XP_024301924.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446158.1:c.35_36insGGAGCTAATGGCAAGAATGGCGAT XP_024301926.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446160.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301928.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
XM_024446161.1:c.842_843insGGAGCTAATGGCAAGAATGGCGAT XP_024301929.1:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
NM_022455.5:c.842_843insGGAGCTAATGGCAAGAATGGCGAT MANE Select NP_071900.2:p.Asp281delinsGluGluLeuMetAlaArgMetAlaIle
NM_172349.3:c.35_36insGGAGCTAATGGCAAGAATGGCGAT NP_758859.1:p.Asp12delinsGluGluLeuMetAlaArgMetAlaIle
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