Canonical Allele Identifier: CA16611844
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 407367
dbSNP Id: rs1060501497

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177210053del , CM000667.2:g.177210053del GRCh38
NC_000005.9:g.176637054del , CM000667.1:g.176637054del GRCh37
NC_000005.8:g.176569660del NCBI36
NG_009821.1:g.81975del , LRG_512:g.81975del

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.781del ENSP00000423372.3:p.Ser261ProfsTer3
ENST00000347982.9:c.781del ENSP00000343209.5:p.Ser261ProfsTer3
ENST00000354179.9:c.781del ENSP00000346111.5:p.Ser261ProfsTer3
ENST00000508896.6:c.781del ENSP00000423372.2:p.Ser261ProfsTer3
ENST00000510954.6:n.612+5761del
ENST00000638627.3:c.598del ENSP00000492679.3:p.Ser200ProfsTer3
ENST00000644863.2:c.598del ENSP00000496157.2:p.Ser200ProfsTer3
ENST00000685206.1:n.1237del
ENST00000686993.1:c.781del ENSP00000510020.1:p.Ser261ProfsTer3
ENST00000687453.1:c.1345del ENSP00000508426.1:p.Ser449ProfsTer3
ENST00000688613.1:n.1051del
ENST00000689326.1:c.1654del ENSP00000509594.1:p.Ser552ProfsTer3
ENST00000689345.1:c.781del ENSP00000509711.1:p.Ser261ProfsTer3
ENST00000689549.1:n.1801del
ENST00000439151.7:c.1654del MANE Select ENSP00000395929.2:p.Ser552ProfsTer3
ENST00000638627.2:c.*747del ENSP00000492679.2:n.*747del
ENST00000644863.1:c.*963del ENSP00000496157.1:n.*963del
ENST00000347982.8:c.847del ENSP00000343209.4:p.Ser283ProfsTer3
ENST00000354179.8:c.847del ENSP00000346111.4:p.Ser283ProfsTer3
ENST00000439151.6:c.1654del ENSP00000395929.2:p.Ser552ProfsTer3
NM_022455.4:c.1654del , LRG_512t1:c.1654del NP_071900.2:p.Ser552ProfsTer3
NM_172349.2:c.847del NP_758859.1:p.Ser283ProfsTer3
XM_005265959.1:c.1654del XP_005266016.1:p.Ser552ProfsTer3
XM_005265960.1:c.847del XP_005266017.1:p.Ser283ProfsTer3
XM_005265961.1:c.847del XP_005266018.1:p.Ser283ProfsTer3
XM_011534610.1:c.1654del XP_011532912.1:p.Ser552ProfsTer3
XM_011534611.1:c.1654del XP_011532913.1:p.Ser552ProfsTer3
XM_011534612.1:c.1234del XP_011532914.1:p.Ser412ProfsTer3
XM_011534613.1:c.598del XP_011532915.1:p.Ser200ProfsTer3
XM_011534614.1:c.1654del XP_011532916.1:p.Ser552ProfsTer3
XM_011534615.1:c.1654del XP_011532917.1:p.Ser552ProfsTer3
XM_011534616.1:c.1654del XP_011532918.1:p.Ser552ProfsTer3
NM_001365684.1:c.847del NP_001352613.1:p.Ser283ProfsTer3
XM_024446150.1:c.1654del XP_024301918.1:p.Ser552ProfsTer3
XM_024446151.1:c.1654del XP_024301919.1:p.Ser552ProfsTer3
XM_024446152.1:c.1654del XP_024301920.1:p.Ser552ProfsTer3
XM_024446153.1:c.1654del XP_024301921.1:p.Ser552ProfsTer3
XM_024446154.1:c.1234del XP_024301922.1:p.Ser412ProfsTer3
XM_024446155.1:c.847del XP_024301923.1:p.Ser283ProfsTer3
XM_024446156.1:c.847del XP_024301924.1:p.Ser283ProfsTer3
XM_024446158.1:c.847del XP_024301926.1:p.Ser283ProfsTer3
XM_024446159.1:c.598del XP_024301927.1:p.Ser200ProfsTer3
XM_024446160.1:c.1654del XP_024301928.1:p.Ser552ProfsTer3
XM_024446161.1:c.1654del XP_024301929.1:p.Ser552ProfsTer3
XM_024446162.1:c.-2342del XP_024301930.1:n.-2342del
NM_022455.5:c.1654del MANE Select NP_071900.2:p.Ser552ProfsTer3
NM_172349.3:c.847del NP_758859.1:p.Ser283ProfsTer3