Canonical Allele Identifier: CA915942721
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177210446_177210447del , CM000667.2:g.177210446_177210447del GRCh38
NC_000005.9:g.176637447_176637448del , CM000667.1:g.176637447_176637448del GRCh37
NC_000005.8:g.176570053_176570054del NCBI36
NG_009821.1:g.82368_82369del , LRG_512:g.82368_82369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.1174_1175del ENSP00000423372.3:p.Lys392AspfsTer5
ENST00000347982.9:c.1174_1175del ENSP00000343209.5:p.Lys392AspfsTer5
ENST00000354179.9:c.1174_1175del ENSP00000346111.5:p.Lys392AspfsTer5
ENST00000508896.6:c.1174_1175del ENSP00000423372.2:p.Lys392AspfsTer?
ENST00000510954.6:n.612+6154_612+6155del
ENST00000638627.3:c.991_992del ENSP00000492679.3:p.Lys331AspfsTer?
ENST00000685206.1:n.1630_1631del
ENST00000686993.1:c.1174_1175del ENSP00000510020.1:p.Lys392AspfsTer5
ENST00000687453.1:c.1738_1739del ENSP00000508426.1:p.Lys580AspfsTer5
ENST00000688613.1:n.1444_1445del
ENST00000689326.1:c.2047_2048del ENSP00000509594.1:p.Lys683AspfsTer5
ENST00000689345.1:c.1174_1175del ENSP00000509711.1:p.Lys392AspfsTer5
ENST00000689549.1:n.2194_2195del
ENST00000439151.7:c.2047_2048del MANE Select ENSP00000395929.2:p.Lys683AspfsTer5
ENST00000638627.2:c.*1140_*1141del ENSP00000492679.2:n.*1140_*1141del
ENST00000347982.8:c.1240_1241del ENSP00000343209.4:p.Lys414AspfsTer5
ENST00000354179.8:c.1240_1241del ENSP00000346111.4:p.Lys414AspfsTer5
ENST00000439151.6:c.2047_2048del ENSP00000395929.2:p.Lys683AspfsTer5
NM_022455.4:c.2047_2048del , LRG_512t1:c.2047_2048del NP_071900.2:p.Lys683AspfsTer5
NM_172349.2:c.1240_1241del NP_758859.1:p.Lys414AspfsTer5
XM_005265959.1:c.2047_2048del XP_005266016.1:p.Lys683AspfsTer5
XM_005265960.1:c.1240_1241del XP_005266017.1:p.Lys414AspfsTer5
XM_005265961.1:c.1240_1241del XP_005266018.1:p.Lys414AspfsTer5
XM_011534610.1:c.2047_2048del XP_011532912.1:p.Lys683AspfsTer5
XM_011534611.1:c.2047_2048del XP_011532913.1:p.Lys683AspfsTer5
XM_011534612.1:c.1627_1628del XP_011532914.1:p.Lys543AspfsTer5
XM_011534613.1:c.991_992del XP_011532915.1:p.Lys331AspfsTer5
XM_011534614.1:c.2047_2048del XP_011532916.1:p.Lys683AspfsTer5
XM_011534615.1:c.2047_2048del XP_011532917.1:p.Lys683AspfsTer5
XM_011534616.1:c.2047_2048del XP_011532918.1:p.Lys683AspfsTer5
NM_001365684.1:c.1240_1241del NP_001352613.1:p.Lys414AspfsTer5
XM_024446150.1:c.2047_2048del XP_024301918.1:p.Lys683AspfsTer5
XM_024446151.1:c.2047_2048del XP_024301919.1:p.Lys683AspfsTer5
XM_024446152.1:c.2047_2048del XP_024301920.1:p.Lys683AspfsTer5
XM_024446153.1:c.2047_2048del XP_024301921.1:p.Lys683AspfsTer5
XM_024446154.1:c.1627_1628del XP_024301922.1:p.Lys543AspfsTer5
XM_024446155.1:c.1240_1241del XP_024301923.1:p.Lys414AspfsTer5
XM_024446156.1:c.1240_1241del XP_024301924.1:p.Lys414AspfsTer5
XM_024446158.1:c.1240_1241del XP_024301926.1:p.Lys414AspfsTer5
XM_024446159.1:c.991_992del XP_024301927.1:p.Lys331AspfsTer5
XM_024446160.1:c.2047_2048del XP_024301928.1:p.Lys683AspfsTer5
XM_024446161.1:c.2047_2048del XP_024301929.1:p.Lys683AspfsTer5
XM_024446162.1:c.-1949_-1948del XP_024301930.1:n.-1949_-1948del
NM_022455.5:c.2047_2048del MANE Select NP_071900.2:p.Lys683AspfsTer5
NM_172349.3:c.1240_1241del NP_758859.1:p.Lys414AspfsTer5