Canonical Allele Identifier: CA294851
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177211782_177211783del , CM000667.2:g.177211782_177211783del GRCh38
NC_000005.9:g.176638783_176638784del , CM000667.1:g.176638783_176638784del GRCh37
NC_000005.8:g.176571389_176571390del NCBI36
NG_009821.1:g.83704_83705del , LRG_512:g.83704_83705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.2510_2511del ENSP00000423372.3:p.Ser837PhefsTer2
ENST00000347982.9:c.2510_2511del ENSP00000343209.5:p.Ser837PhefsTer2
ENST00000354179.9:c.2510_2511del ENSP00000346111.5:p.Ser837PhefsTer2
ENST00000510954.6:n.612+7490_612+7491del
ENST00000685206.1:n.2966_2967del
ENST00000686993.1:c.2510_2511del ENSP00000510020.1:p.Ser837PhefsTer2
ENST00000687453.1:c.3074_3075del ENSP00000508426.1:p.Ser1025PhefsTer2
ENST00000688613.1:n.2780_2781del
ENST00000689326.1:c.3383_3384del ENSP00000509594.1:p.Ser1128PhefsTer2
ENST00000689345.1:c.2510_2511del ENSP00000509711.1:p.Ser837PhefsTer2
ENST00000689549.1:n.3530_3531del
ENST00000439151.7:c.3383_3384del MANE Select ENSP00000395929.2:p.Ser1128PhefsTer2
ENST00000347982.8:c.2576_2577del ENSP00000343209.4:p.Ser859PhefsTer2
ENST00000354179.8:c.2576_2577del ENSP00000346111.4:p.Ser859PhefsTer2
ENST00000439151.6:c.3383_3384del ENSP00000395929.2:p.Ser1128PhefsTer2
NM_022455.4:c.3383_3384del , LRG_512t1:c.3383_3384del NP_071900.2:p.Ser1128PhefsTer2
NM_172349.2:c.2576_2577del NP_758859.1:p.Ser859PhefsTer2
XM_005265959.1:c.3383_3384del XP_005266016.1:p.Ser1128PhefsTer2
XM_005265960.1:c.2576_2577del XP_005266017.1:p.Ser859PhefsTer2
XM_005265961.1:c.2576_2577del XP_005266018.1:p.Ser859PhefsTer2
XM_011534610.1:c.3383_3384del XP_011532912.1:p.Ser1128PhefsTer2
XM_011534611.1:c.3383_3384del XP_011532913.1:p.Ser1128PhefsTer2
XM_011534612.1:c.2963_2964del XP_011532914.1:p.Ser988PhefsTer2
XM_011534613.1:c.2327_2328del XP_011532915.1:p.Ser776PhefsTer2
XM_011534614.1:c.3383_3384del XP_011532916.1:p.Ser1128PhefsTer2
XM_011534615.1:c.3383_3384del XP_011532917.1:p.Ser1128PhefsTer2
XM_011534616.1:c.3383_3384del XP_011532918.1:p.Ser1128PhefsTer2
NM_001365684.1:c.2576_2577del NP_001352613.1:p.Ser859PhefsTer2
XM_024446150.1:c.3383_3384del XP_024301918.1:p.Ser1128PhefsTer2
XM_024446151.1:c.3383_3384del XP_024301919.1:p.Ser1128PhefsTer2
XM_024446152.1:c.3383_3384del XP_024301920.1:p.Ser1128PhefsTer2
XM_024446153.1:c.3383_3384del XP_024301921.1:p.Ser1128PhefsTer2
XM_024446154.1:c.2963_2964del XP_024301922.1:p.Ser988PhefsTer2
XM_024446155.1:c.2576_2577del XP_024301923.1:p.Ser859PhefsTer2
XM_024446156.1:c.2576_2577del XP_024301924.1:p.Ser859PhefsTer2
XM_024446158.1:c.2576_2577del XP_024301926.1:p.Ser859PhefsTer2
XM_024446159.1:c.2327_2328del XP_024301927.1:p.Ser776PhefsTer2
XM_024446160.1:c.3383_3384del XP_024301928.1:p.Ser1128PhefsTer2
XM_024446161.1:c.3383_3384del XP_024301929.1:p.Ser1128PhefsTer2
XM_024446162.1:c.-613_-612del XP_024301930.1:n.-613_-612del
NM_022455.5:c.3383_3384del MANE Select NP_071900.2:p.Ser1128PhefsTer2
NM_172349.3:c.2576_2577del NP_758859.1:p.Ser859PhefsTer2