Canonical Allele Identifier: CA294870

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159324
• ClinVar RCV Id: RCV000294038 ; RCV003231224
• dbSNP Id: rs587784112
• MyVariant Identifiers: chr5:g.176666865del (hg19) ; chr5:g.177239864del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177239864del , CM000667.2:g.177239864del	GRCh38
NC_000005.9:g.176666865del , CM000667.1:g.176666865del	GRCh37
NC_000005.8:g.176599471del	NCBI36
NG_009821.1:g.111786del , LRG_512:g.111786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.3428del	ENSP00000423372.3:p.Lys1143SerfsTer12
ENST00000347982.9:c.3428del	ENSP00000343209.5:p.Lys1143SerfsTer12
ENST00000354179.9:c.3428del	ENSP00000346111.5:p.Lys1143SerfsTer12
ENST00000685206.1:n.3884del
ENST00000686993.1:c.3428del	ENSP00000510020.1:p.Lys1143SerfsTer12
ENST00000687453.1:c.3992del	ENSP00000508426.1:p.Lys1331SerfsTer12
ENST00000688613.1:n.3698del
ENST00000689326.1:c.*46del	ENSP00000509594.1:n.*46del
ENST00000689345.1:c.3428del	ENSP00000509711.1:p.Lys1143SerfsTer12
ENST00000689549.1:n.4448del
ENST00000439151.7:c.4301del MANE Select	ENSP00000395929.2:p.Lys1434SerfsTer12
ENST00000347982.8:c.3494del	ENSP00000343209.4:p.Lys1165SerfsTer12
ENST00000354179.8:c.3494del	ENSP00000346111.4:p.Lys1165SerfsTer12
ENST00000375350.3:c.441del	ENSP00000364499.3:n.441del
ENST00000439151.6:c.4301del	ENSP00000395929.2:p.Lys1434SerfsTer12
NM_022455.4:c.4301del , LRG_512t1:c.4301del	NP_071900.2:p.Lys1434SerfsTer12
NM_172349.2:c.3494del	NP_758859.1:p.Lys1165SerfsTer12
XM_005265959.1:c.4301del	XP_005266016.1:p.Lys1434SerfsTer12
XM_005265960.1:c.3494del	XP_005266017.1:p.Lys1165SerfsTer12
XM_005265961.1:c.3494del	XP_005266018.1:p.Lys1165SerfsTer12
XM_011534610.1:c.4301del	XP_011532912.1:p.Lys1434SerfsTer12
XM_011534611.1:c.4301del	XP_011532913.1:p.Lys1434SerfsTer12
XM_011534612.1:c.3881del	XP_011532914.1:p.Lys1294SerfsTer12
XM_011534613.1:c.3245del	XP_011532915.1:p.Lys1082SerfsTer12
XM_011534614.1:c.4301del	XP_011532916.1:p.Lys1434SerfsTer12
XM_011534615.1:c.4301del	XP_011532917.1:p.Lys1434SerfsTer12
XM_011534616.1:c.*46del	XP_011532918.1:n.*46del
XM_011534617.1:c.35del	XP_011532919.1:p.Lys12SerfsTer12
NM_001365684.1:c.3494del	NP_001352613.1:p.Lys1165SerfsTer12
XM_024446150.1:c.4301del	XP_024301918.1:p.Lys1434SerfsTer12
XM_024446151.1:c.4301del	XP_024301919.1:p.Lys1434SerfsTer12
XM_024446152.1:c.4301del	XP_024301920.1:p.Lys1434SerfsTer12
XM_024446153.1:c.4301del	XP_024301921.1:p.Lys1434SerfsTer12
XM_024446154.1:c.3881del	XP_024301922.1:p.Lys1294SerfsTer12
XM_024446155.1:c.3494del	XP_024301923.1:p.Lys1165SerfsTer12
XM_024446156.1:c.3494del	XP_024301924.1:p.Lys1165SerfsTer12
XM_024446158.1:c.3494del	XP_024301926.1:p.Lys1165SerfsTer12
XM_024446159.1:c.3245del	XP_024301927.1:p.Lys1082SerfsTer12
XM_024446160.1:c.4301del	XP_024301928.1:p.Lys1434SerfsTer12
XM_024446161.1:c.4301del	XP_024301929.1:p.Lys1434SerfsTer12
XM_024446162.1:c.35del	XP_024301930.1:p.Lys12SerfsTer12
NM_022455.5:c.4301del MANE Select	NP_071900.2:p.Lys1434SerfsTer12
NM_172349.3:c.3494del	NP_758859.1:p.Lys1165SerfsTer12