Canonical Allele Identifier: CA294900

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159341
• ClinVar RCV Id: RCV003231241
• dbSNP Id: rs587784123
• MyVariant Identifiers: chr5:g.176678794del (hg19) ; chr5:g.177251793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177251793del , CM000667.2:g.177251793del	GRCh38
NC_000005.9:g.176678794del , CM000667.1:g.176678794del	GRCh37
NC_000005.8:g.176611400del	NCBI36
NG_009821.1:g.123715del , LRG_512:g.123715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.3832del	ENSP00000423372.3:p.Glu1278SerfsTer5
ENST00000347982.9:c.3832del	ENSP00000343209.5:p.Glu1278SerfsTer5
ENST00000354179.9:c.3832del	ENSP00000346111.5:p.Glu1278SerfsTer5
ENST00000685206.1:n.4288del
ENST00000686993.1:c.3832del	ENSP00000510020.1:p.Glu1278SerfsTer5
ENST00000687453.1:c.4396del	ENSP00000508426.1:p.Glu1466SerfsTer5
ENST00000688613.1:n.4102del
ENST00000689345.1:c.3832del	ENSP00000509711.1:p.Glu1278SerfsTer5
ENST00000689549.1:n.4852del
ENST00000439151.7:c.4705del MANE Select	ENSP00000395929.2:p.Glu1569SerfsTer5
ENST00000347982.8:c.3898del	ENSP00000343209.4:p.Glu1300SerfsTer5
ENST00000354179.8:c.3898del	ENSP00000346111.4:p.Glu1300SerfsTer5
ENST00000439151.6:c.4705del	ENSP00000395929.2:p.Glu1569SerfsTer5
NM_022455.4:c.4705del , LRG_512t1:c.4705del	NP_071900.2:p.Glu1569SerfsTer5
NM_172349.2:c.3898del	NP_758859.1:p.Glu1300SerfsTer5
XM_005265959.1:c.4705del	XP_005266016.1:p.Glu1569SerfsTer5
XM_005265960.1:c.3898del	XP_005266017.1:p.Glu1300SerfsTer5
XM_005265961.1:c.3898del	XP_005266018.1:p.Glu1300SerfsTer5
XM_005265962.3:c.199del	XP_005266019.1:p.Glu67SerfsTer5
XM_011534610.1:c.4705del	XP_011532912.1:p.Glu1569SerfsTer5
XM_011534611.1:c.4705del	XP_011532913.1:p.Glu1569SerfsTer5
XM_011534612.1:c.4285del	XP_011532914.1:p.Glu1429SerfsTer5
XM_011534613.1:c.3649del	XP_011532915.1:p.Glu1217SerfsTer5
XM_011534614.1:c.4705del	XP_011532916.1:p.Glu1569SerfsTer5
XM_011534617.1:c.439del	XP_011532919.1:p.Glu147SerfsTer5
NM_001365684.1:c.3898del	NP_001352613.1:p.Glu1300SerfsTer5
XM_024446150.1:c.4705del	XP_024301918.1:p.Glu1569SerfsTer5
XM_024446151.1:c.4705del	XP_024301919.1:p.Glu1569SerfsTer5
XM_024446152.1:c.4705del	XP_024301920.1:p.Glu1569SerfsTer5
XM_024446153.1:c.4705del	XP_024301921.1:p.Glu1569SerfsTer5
XM_024446154.1:c.4285del	XP_024301922.1:p.Glu1429SerfsTer5
XM_024446155.1:c.3898del	XP_024301923.1:p.Glu1300SerfsTer5
XM_024446156.1:c.3898del	XP_024301924.1:p.Glu1300SerfsTer5
XM_024446158.1:c.3898del	XP_024301926.1:p.Glu1300SerfsTer5
XM_024446159.1:c.3649del	XP_024301927.1:p.Glu1217SerfsTer5
XM_024446160.1:c.4705del	XP_024301928.1:p.Glu1569SerfsTer5
XM_024446162.1:c.439del	XP_024301930.1:p.Glu147SerfsTer5
XM_024446163.1:c.199del	XP_024301931.1:p.Glu67SerfsTer5
NM_022455.5:c.4705del MANE Select	NP_071900.2:p.Glu1569SerfsTer5
NM_172349.3:c.3898del	NP_758859.1:p.Glu1300SerfsTer5