Canonical Allele Identifier: CA319731
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177239864dup , CM000667.2:g.177239864dup GRCh38
NC_000005.9:g.176666865dup , CM000667.1:g.176666865dup GRCh37
NC_000005.8:g.176599471dup NCBI36
NG_009821.1:g.111786dup , LRG_512:g.111786dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.3428dup ENSP00000423372.3:p.Cys1144ValfsTer3
ENST00000347982.9:c.3428dup ENSP00000343209.5:p.Cys1144ValfsTer3
ENST00000354179.9:c.3428dup ENSP00000346111.5:p.Cys1144ValfsTer3
ENST00000685206.1:n.3884dup
ENST00000686993.1:c.3428dup ENSP00000510020.1:p.Cys1144ValfsTer3
ENST00000687453.1:c.3992dup ENSP00000508426.1:p.Cys1332ValfsTer3
ENST00000688613.1:n.3698dup
ENST00000689326.1:c.*46dup ENSP00000509594.1:n.*46dup
ENST00000689345.1:c.3428dup ENSP00000509711.1:p.Cys1144ValfsTer3
ENST00000689549.1:n.4448dup
ENST00000439151.7:c.4301dup MANE Select ENSP00000395929.2:p.Cys1435ValfsTer3
ENST00000347982.8:c.3494dup ENSP00000343209.4:p.Cys1166ValfsTer3
ENST00000354179.8:c.3494dup ENSP00000346111.4:p.Cys1166ValfsTer3
ENST00000375350.3:c.441dup ENSP00000364499.3:n.441dup
ENST00000439151.6:c.4301dup ENSP00000395929.2:p.Cys1435ValfsTer3
NM_022455.4:c.4301dup , LRG_512t1:c.4301dup NP_071900.2:p.Cys1435ValfsTer3
NM_172349.2:c.3494dup NP_758859.1:p.Cys1166ValfsTer3
XM_005265959.1:c.4301dup XP_005266016.1:p.Cys1435ValfsTer3
XM_005265960.1:c.3494dup XP_005266017.1:p.Cys1166ValfsTer3
XM_005265961.1:c.3494dup XP_005266018.1:p.Cys1166ValfsTer3
XM_011534610.1:c.4301dup XP_011532912.1:p.Cys1435ValfsTer3
XM_011534611.1:c.4301dup XP_011532913.1:p.Cys1435ValfsTer3
XM_011534612.1:c.3881dup XP_011532914.1:p.Cys1295ValfsTer3
XM_011534613.1:c.3245dup XP_011532915.1:p.Cys1083ValfsTer3
XM_011534614.1:c.4301dup XP_011532916.1:p.Cys1435ValfsTer3
XM_011534615.1:c.4301dup XP_011532917.1:p.Cys1435ValfsTer3
XM_011534616.1:c.*46dup XP_011532918.1:n.*46dup
XM_011534617.1:c.35dup XP_011532919.1:p.Cys13ValfsTer3
NM_001365684.1:c.3494dup NP_001352613.1:p.Cys1166ValfsTer3
XM_024446150.1:c.4301dup XP_024301918.1:p.Cys1435ValfsTer3
XM_024446151.1:c.4301dup XP_024301919.1:p.Cys1435ValfsTer3
XM_024446152.1:c.4301dup XP_024301920.1:p.Cys1435ValfsTer3
XM_024446153.1:c.4301dup XP_024301921.1:p.Cys1435ValfsTer3
XM_024446154.1:c.3881dup XP_024301922.1:p.Cys1295ValfsTer3
XM_024446155.1:c.3494dup XP_024301923.1:p.Cys1166ValfsTer3
XM_024446156.1:c.3494dup XP_024301924.1:p.Cys1166ValfsTer3
XM_024446158.1:c.3494dup XP_024301926.1:p.Cys1166ValfsTer3
XM_024446159.1:c.3245dup XP_024301927.1:p.Cys1083ValfsTer3
XM_024446160.1:c.4301dup XP_024301928.1:p.Cys1435ValfsTer3
XM_024446161.1:c.4301dup XP_024301929.1:p.Cys1435ValfsTer3
XM_024446162.1:c.35dup XP_024301930.1:p.Cys13ValfsTer3
NM_022455.5:c.4301dup MANE Select NP_071900.2:p.Cys1435ValfsTer3
NM_172349.3:c.3494dup NP_758859.1:p.Cys1166ValfsTer3