Canonical Allele Identifier: CA2839882814
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177238363_177238364insTT , CM000667.2:g.177238363_177238364insTT GRCh38
NC_000005.9:g.176665364_176665365insTT , CM000667.1:g.176665364_176665365insTT GRCh37
NC_000005.8:g.176597970_176597971insTT NCBI36
NG_009821.1:g.110285_110286insTT , LRG_512:g.110285_110286insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.3175_3176insTT ENSP00000423372.3:p.Pro1059LeufsTer23
ENST00000347982.9:c.3175_3176insTT ENSP00000343209.5:p.Pro1059LeufsTer23
ENST00000354179.9:c.3175_3176insTT ENSP00000346111.5:p.Pro1059LeufsTer23
ENST00000510954.6:n.864_865insTT
ENST00000685206.1:n.3631_3632insTT
ENST00000686993.1:c.3175_3176insTT ENSP00000510020.1:p.Pro1059LeufsTer23
ENST00000687453.1:c.3739_3740insTT ENSP00000508426.1:p.Pro1247LeufsTer23
ENST00000688613.1:n.3445_3446insTT
ENST00000689326.1:c.3922-1393_3922-1392insTT ENSP00000509594.1:n.3922-1393_3922-1392insTT
ENST00000689345.1:c.3175_3176insTT ENSP00000509711.1:p.Pro1059LeufsTer23
ENST00000689549.1:n.4195_4196insTT
ENST00000439151.7:c.4048_4049insTT MANE Select ENSP00000395929.2:p.Pro1350LeufsTer23
ENST00000347982.8:c.3241_3242insTT ENSP00000343209.4:p.Pro1081LeufsTer23
ENST00000354179.8:c.3241_3242insTT ENSP00000346111.4:p.Pro1081LeufsTer23
ENST00000375350.3:c.333-1393_333-1392insTT ENSP00000364499.3:n.333-1393_333-1392insTT
ENST00000439151.6:c.4048_4049insTT ENSP00000395929.2:p.Pro1350LeufsTer23
NM_022455.4:c.4048_4049insTT , LRG_512t1:c.4048_4049insTT NP_071900.2:p.Pro1350LeufsTer23
NM_172349.2:c.3241_3242insTT NP_758859.1:p.Pro1081LeufsTer23
XM_005265959.1:c.4048_4049insTT XP_005266016.1:p.Pro1350LeufsTer23
XM_005265960.1:c.3241_3242insTT XP_005266017.1:p.Pro1081LeufsTer23
XM_005265961.1:c.3241_3242insTT XP_005266018.1:p.Pro1081LeufsTer23
XM_011534610.1:c.4048_4049insTT XP_011532912.1:p.Pro1350LeufsTer23
XM_011534611.1:c.4048_4049insTT XP_011532913.1:p.Pro1350LeufsTer23
XM_011534612.1:c.3628_3629insTT XP_011532914.1:p.Pro1210LeufsTer23
XM_011534613.1:c.2992_2993insTT XP_011532915.1:p.Pro998LeufsTer23
XM_011534614.1:c.4048_4049insTT XP_011532916.1:p.Pro1350LeufsTer23
XM_011534615.1:c.4048_4049insTT XP_011532917.1:p.Pro1350LeufsTer23
XM_011534616.1:c.3922-1393_3922-1392insTT XP_011532918.1:n.3922-1393_3922-1392insTT
XM_011534617.1:c.-74-1393_-74-1392insTT XP_011532919.1:n.-74-1393_-74-1392insTT
NM_001365684.1:c.3241_3242insTT NP_001352613.1:p.Pro1081LeufsTer23
XM_024446150.1:c.4048_4049insTT XP_024301918.1:p.Pro1350LeufsTer23
XM_024446151.1:c.4048_4049insTT XP_024301919.1:p.Pro1350LeufsTer23
XM_024446152.1:c.4048_4049insTT XP_024301920.1:p.Pro1350LeufsTer23
XM_024446153.1:c.4048_4049insTT XP_024301921.1:p.Pro1350LeufsTer23
XM_024446154.1:c.3628_3629insTT XP_024301922.1:p.Pro1210LeufsTer23
XM_024446155.1:c.3241_3242insTT XP_024301923.1:p.Pro1081LeufsTer23
XM_024446156.1:c.3241_3242insTT XP_024301924.1:p.Pro1081LeufsTer23
XM_024446158.1:c.3241_3242insTT XP_024301926.1:p.Pro1081LeufsTer23
XM_024446159.1:c.2992_2993insTT XP_024301927.1:p.Pro998LeufsTer23
XM_024446160.1:c.4048_4049insTT XP_024301928.1:p.Pro1350LeufsTer23
XM_024446161.1:c.4048_4049insTT XP_024301929.1:p.Pro1350LeufsTer23
XM_024446162.1:c.-74-1393_-74-1392insTT XP_024301930.1:n.-74-1393_-74-1392insTT
NM_022455.5:c.4048_4049insTT MANE Select NP_071900.2:p.Pro1350LeufsTer23
NM_172349.3:c.3241_3242insTT NP_758859.1:p.Pro1081LeufsTer23