Canonical Allele Identifier: CA2580074127

Gene: NSD1

Linked Data

• ClinVar Variation Id: 1727416
• ClinVar RCV Id: RCV002325756 ; RCV003232608 ; RCV003896118

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177211488_177211489delinsCT , CM000667.2:g.177211488_177211489delinsCT	GRCh38
NC_000005.9:g.176638489_176638490delinsCT , CM000667.1:g.176638489_176638490delinsCT	GRCh37
NC_000005.8:g.176571095_176571096delinsCT	NCBI36
NG_009821.1:g.83410_83411delinsCT , LRG_512:g.83410_83411delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.2216_2217delinsCT	ENSP00000423372.3:p.Leu739Ser
ENST00000347982.9:c.2216_2217delinsCT	ENSP00000343209.5:p.Leu739Ser
ENST00000354179.9:c.2216_2217delinsCT	ENSP00000346111.5:p.Leu739Ser
ENST00000510954.6:n.612+7196_612+7197delinsCT
ENST00000685206.1:n.2672_2673delinsCT
ENST00000686993.1:c.2216_2217delinsCT	ENSP00000510020.1:p.Leu739Ser
ENST00000687453.1:c.2780_2781delinsCT	ENSP00000508426.1:p.Leu927Ser
ENST00000688613.1:n.2486_2487delinsCT
ENST00000689326.1:c.3089_3090delinsCT	ENSP00000509594.1:p.Leu1030Ser
ENST00000689345.1:c.2216_2217delinsCT	ENSP00000509711.1:p.Leu739Ser
ENST00000689549.1:n.3236_3237delinsCT
ENST00000439151.7:c.3089_3090delinsCT MANE Select	ENSP00000395929.2:p.Leu1030Ser
ENST00000347982.8:c.2282_2283delinsCT	ENSP00000343209.4:p.Leu761Ser
ENST00000354179.8:c.2282_2283delinsCT	ENSP00000346111.4:p.Leu761Ser
ENST00000439151.6:c.3089_3090delinsCT	ENSP00000395929.2:p.Leu1030Ser
NM_022455.4:c.3089_3090delinsCT , LRG_512t1:c.3089_3090delinsCT	NP_071900.2:p.Leu1030Ser
NM_172349.2:c.2282_2283delinsCT	NP_758859.1:p.Leu761Ser
XM_005265959.1:c.3089_3090delinsCT	XP_005266016.1:p.Leu1030Ser
XM_005265960.1:c.2282_2283delinsCT	XP_005266017.1:p.Leu761Ser
XM_005265961.1:c.2282_2283delinsCT	XP_005266018.1:p.Leu761Ser
XM_011534610.1:c.3089_3090delinsCT	XP_011532912.1:p.Leu1030Ser
XM_011534611.1:c.3089_3090delinsCT	XP_011532913.1:p.Leu1030Ser
XM_011534612.1:c.2669_2670delinsCT	XP_011532914.1:p.Leu890Ser
XM_011534613.1:c.2033_2034delinsCT	XP_011532915.1:p.Leu678Ser
XM_011534614.1:c.3089_3090delinsCT	XP_011532916.1:p.Leu1030Ser
XM_011534615.1:c.3089_3090delinsCT	XP_011532917.1:p.Leu1030Ser
XM_011534616.1:c.3089_3090delinsCT	XP_011532918.1:p.Leu1030Ser
NM_001365684.1:c.2282_2283delinsCT	NP_001352613.1:p.Leu761Ser
XM_024446150.1:c.3089_3090delinsCT	XP_024301918.1:p.Leu1030Ser
XM_024446151.1:c.3089_3090delinsCT	XP_024301919.1:p.Leu1030Ser
XM_024446152.1:c.3089_3090delinsCT	XP_024301920.1:p.Leu1030Ser
XM_024446153.1:c.3089_3090delinsCT	XP_024301921.1:p.Leu1030Ser
XM_024446154.1:c.2669_2670delinsCT	XP_024301922.1:p.Leu890Ser
XM_024446155.1:c.2282_2283delinsCT	XP_024301923.1:p.Leu761Ser
XM_024446156.1:c.2282_2283delinsCT	XP_024301924.1:p.Leu761Ser
XM_024446158.1:c.2282_2283delinsCT	XP_024301926.1:p.Leu761Ser
XM_024446159.1:c.2033_2034delinsCT	XP_024301927.1:p.Leu678Ser
XM_024446160.1:c.3089_3090delinsCT	XP_024301928.1:p.Leu1030Ser
XM_024446161.1:c.3089_3090delinsCT	XP_024301929.1:p.Leu1030Ser
XM_024446162.1:c.-907_-906delinsCT	XP_024301930.1:n.-907_-906delinsCT
NM_022455.5:c.3089_3090delinsCT MANE Select	NP_071900.2:p.Leu1030Ser
NM_172349.3:c.2282_2283delinsCT	NP_758859.1:p.Leu761Ser