Canonical Allele Identifier: CA2695202768

Gene: NSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177210055del , CM000667.2:g.177210055del	GRCh38
NC_000005.9:g.176637056del , CM000667.1:g.176637056del	GRCh37
NC_000005.8:g.176569662del	NCBI36
NG_009821.1:g.81977del , LRG_512:g.81977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000508896.7:c.783del	ENSP00000423372.3:p.Arg262GlyfsTer2
ENST00000347982.9:c.783del	ENSP00000343209.5:p.Arg262GlyfsTer2
ENST00000354179.9:c.783del	ENSP00000346111.5:p.Arg262GlyfsTer2
ENST00000508896.6:c.783del	ENSP00000423372.2:p.Arg262GlyfsTer2
ENST00000510954.6:n.612+5763del
ENST00000638627.3:c.600del	ENSP00000492679.3:p.Arg201GlyfsTer2
ENST00000644863.2:c.600del	ENSP00000496157.2:p.Arg201GlyfsTer2
ENST00000685206.1:n.1239del
ENST00000686993.1:c.783del	ENSP00000510020.1:p.Arg262GlyfsTer2
ENST00000687453.1:c.1347del	ENSP00000508426.1:p.Arg450GlyfsTer2
ENST00000688613.1:n.1053del
ENST00000689326.1:c.1656del	ENSP00000509594.1:p.Arg553GlyfsTer2
ENST00000689345.1:c.783del	ENSP00000509711.1:p.Arg262GlyfsTer2
ENST00000689549.1:n.1803del
ENST00000439151.7:c.1656del MANE Select	ENSP00000395929.2:p.Arg553GlyfsTer2
ENST00000638627.2:c.*749del	ENSP00000492679.2:n.*749del
ENST00000644863.1:c.*965del	ENSP00000496157.1:n.*965del
ENST00000347982.8:c.849del	ENSP00000343209.4:p.Arg284GlyfsTer2
ENST00000354179.8:c.849del	ENSP00000346111.4:p.Arg284GlyfsTer2
ENST00000439151.6:c.1656del	ENSP00000395929.2:p.Arg553GlyfsTer2
NM_022455.4:c.1656del , LRG_512t1:c.1656del	NP_071900.2:p.Arg553GlyfsTer2
NM_172349.2:c.849del	NP_758859.1:p.Arg284GlyfsTer2
XM_005265959.1:c.1656del	XP_005266016.1:p.Arg553GlyfsTer2
XM_005265960.1:c.849del	XP_005266017.1:p.Arg284GlyfsTer2
XM_005265961.1:c.849del	XP_005266018.1:p.Arg284GlyfsTer2
XM_011534610.1:c.1656del	XP_011532912.1:p.Arg553GlyfsTer2
XM_011534611.1:c.1656del	XP_011532913.1:p.Arg553GlyfsTer2
XM_011534612.1:c.1236del	XP_011532914.1:p.Arg413GlyfsTer2
XM_011534613.1:c.600del	XP_011532915.1:p.Arg201GlyfsTer2
XM_011534614.1:c.1656del	XP_011532916.1:p.Arg553GlyfsTer2
XM_011534615.1:c.1656del	XP_011532917.1:p.Arg553GlyfsTer2
XM_011534616.1:c.1656del	XP_011532918.1:p.Arg553GlyfsTer2
NM_001365684.1:c.849del	NP_001352613.1:p.Arg284GlyfsTer2
XM_024446150.1:c.1656del	XP_024301918.1:p.Arg553GlyfsTer2
XM_024446151.1:c.1656del	XP_024301919.1:p.Arg553GlyfsTer2
XM_024446152.1:c.1656del	XP_024301920.1:p.Arg553GlyfsTer2
XM_024446153.1:c.1656del	XP_024301921.1:p.Arg553GlyfsTer2
XM_024446154.1:c.1236del	XP_024301922.1:p.Arg413GlyfsTer2
XM_024446155.1:c.849del	XP_024301923.1:p.Arg284GlyfsTer2
XM_024446156.1:c.849del	XP_024301924.1:p.Arg284GlyfsTer2
XM_024446158.1:c.849del	XP_024301926.1:p.Arg284GlyfsTer2
XM_024446159.1:c.600del	XP_024301927.1:p.Arg201GlyfsTer2
XM_024446160.1:c.1656del	XP_024301928.1:p.Arg553GlyfsTer2
XM_024446161.1:c.1656del	XP_024301929.1:p.Arg553GlyfsTer2
XM_024446162.1:c.-2340del	XP_024301930.1:n.-2340del
NM_022455.5:c.1656del MANE Select	NP_071900.2:p.Arg553GlyfsTer2
NM_172349.3:c.849del	NP_758859.1:p.Arg284GlyfsTer2