Canonical Allele Identifier: CA2695205707
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177269729del , CM000667.2:g.177269729del GRCh38
NC_000005.9:g.176696730del , CM000667.1:g.176696730del GRCh37
NC_000005.8:g.176629336del NCBI36
NG_009821.1:g.141651del , LRG_512:g.141651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.4558del ENSP00000423372.3:p.Arg1520GlufsTer10
ENST00000347982.9:c.4558del ENSP00000343209.5:p.Arg1520GlufsTer10
ENST00000354179.9:c.4558del ENSP00000346111.5:p.Arg1520GlufsTer10
ENST00000503056.6:c.73del ENSP00000424024.2:p.Arg25GlufsTer10
ENST00000508029.6:c.73del ENSP00000425120.2:p.Arg25GlufsTer10
ENST00000685206.1:n.5014del
ENST00000686993.1:c.4558del ENSP00000510020.1:p.Arg1520GlufsTer10
ENST00000687095.1:n.258+2011del
ENST00000687453.1:c.5122del ENSP00000508426.1:p.Arg1708GlufsTer10
ENST00000688613.1:n.4828del
ENST00000689345.1:c.4558del ENSP00000509711.1:p.Arg1520GlufsTer10
ENST00000689549.1:n.5578del
ENST00000692024.1:n.2350del
ENST00000439151.7:c.5431del MANE Select ENSP00000395929.2:p.Arg1811GlufsTer10
ENST00000347982.8:c.4624del ENSP00000343209.4:p.Arg1542GlufsTer10
ENST00000354179.8:c.4624del ENSP00000346111.4:p.Arg1542GlufsTer10
ENST00000439151.6:c.5431del ENSP00000395929.2:p.Arg1811GlufsTer10
ENST00000503056.5:c.73del ENSP00000424024.1:p.Arg25GlufsTer10
ENST00000508029.5:c.73del ENSP00000425120.1:p.Arg25GlufsTer?
ENST00000515735.1:c.73del ENSP00000423048.1:p.Arg25GlufsTer10
NM_022455.4:c.5431del , LRG_512t1:c.5431del NP_071900.2:p.Arg1811GlufsTer10
NM_172349.2:c.4624del NP_758859.1:p.Arg1542GlufsTer10
XM_005265959.1:c.5431del XP_005266016.1:p.Arg1811GlufsTer10
XM_005265960.1:c.4624del XP_005266017.1:p.Arg1542GlufsTer10
XM_005265961.1:c.4624del XP_005266018.1:p.Arg1542GlufsTer10
XM_005265962.3:c.925del XP_005266019.1:p.Arg309GlufsTer10
XM_011534610.1:c.5431del XP_011532912.1:p.Arg1811GlufsTer10
XM_011534611.1:c.5431del XP_011532913.1:p.Arg1811GlufsTer10
XM_011534612.1:c.5011del XP_011532914.1:p.Arg1671GlufsTer10
XM_011534613.1:c.4375del XP_011532915.1:p.Arg1459GlufsTer10
XM_011534617.1:c.1165del XP_011532919.1:p.Arg389GlufsTer10
NM_001365684.1:c.4624del NP_001352613.1:p.Arg1542GlufsTer10
XM_024446150.1:c.5431del XP_024301918.1:p.Arg1811GlufsTer10
XM_024446151.1:c.5431del XP_024301919.1:p.Arg1811GlufsTer10
XM_024446152.1:c.5431del XP_024301920.1:p.Arg1811GlufsTer10
XM_024446153.1:c.5431del XP_024301921.1:p.Arg1811GlufsTer10
XM_024446154.1:c.5011del XP_024301922.1:p.Arg1671GlufsTer10
XM_024446155.1:c.4624del XP_024301923.1:p.Arg1542GlufsTer10
XM_024446156.1:c.4624del XP_024301924.1:p.Arg1542GlufsTer10
XM_024446158.1:c.4624del XP_024301926.1:p.Arg1542GlufsTer10
XM_024446159.1:c.4375del XP_024301927.1:p.Arg1459GlufsTer10
XM_024446162.1:c.1165del XP_024301930.1:p.Arg389GlufsTer10
XM_024446163.1:c.925del XP_024301931.1:p.Arg309GlufsTer10
NM_022455.5:c.5431del MANE Select NP_071900.2:p.Arg1811GlufsTer10
NM_172349.3:c.4624del NP_758859.1:p.Arg1542GlufsTer10