Canonical Allele Identifier: CA2499217787

Gene: NSD1

Linked Data

• ClinVar Variation Id: 1067392
• ClinVar RCV Id: RCV003232338
• dbSNP Id: rs2127262979

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177283845_177284102del , CM000667.2:g.177283845_177284102del	GRCh38
NC_000005.9:g.176710846_176711103del , CM000667.1:g.176710846_176711103del	GRCh37
NC_000005.8:g.176643452_176643709del	NCBI36
NG_009821.1:g.155767_156024del , LRG_512:g.155767_156024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5195_5278+174del
ENST00000347982.9:c.5195_5278+174del
ENST00000354179.9:c.5195_5278+174del
ENST00000503056.6:c.710_793+174del
ENST00000508029.6:c.710_793+174del
ENST00000685206.1:n.5651_5734+174del
ENST00000686993.1:c.5195_5278+174del
ENST00000687453.1:c.5759_5842+174del
ENST00000688613.1:n.5465_5548+174del
ENST00000689345.1:c.5195_5278+174del
ENST00000689549.1:n.6215_6472del
ENST00000692024.1:n.4617_4874del
ENST00000439151.7:c.6068_6151+174del
ENST00000347982.8:c.5261_5344+174del
ENST00000354179.8:c.5261_5344+174del
ENST00000439151.6:c.6068_6151+174del
NM_022455.4:c.6068_6151+174del , LRG_512t1:c.6068_6151+174del
NM_172349.2:c.5261_5344+174del
XM_005265959.1:c.6068_6151+174del
XM_005265960.1:c.5261_5344+174del
XM_005265961.1:c.5261_5344+174del
XM_005265962.3:c.1562_1645+174del
XM_011534610.1:c.6068_6151+174del
XM_011534611.1:c.6068_6151+174del
XM_011534612.1:c.5648_5731+174del
XM_011534613.1:c.5012_5095+174del
XM_011534617.1:c.1802_1885+174del
NM_001365684.1:c.5261_5344+174del
XM_024446150.1:c.6068_6151+174del
XM_024446151.1:c.6068_6151+174del
XM_024446152.1:c.6068_6151+174del
XM_024446153.1:c.6068_6151+174del
XM_024446154.1:c.5648_5731+174del
XM_024446155.1:c.5261_5344+174del
XM_024446156.1:c.5261_5344+174del
XM_024446158.1:c.5261_5344+174del
XM_024446159.1:c.5012_5095+174del
XM_024446162.1:c.1802_1885+174del
XM_024446163.1:c.1562_1645+174del
NM_022455.5:c.6068_6151+174del
NM_172349.3:c.5261_5344+174del