Canonical Allele Identifier: CA16618183
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418679
ClinVar RCV Id: RCV000483662
dbSNP Id: rs1064793361

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177280835del , CM000667.2:g.177280835del GRCh38
NC_000005.9:g.176707836del , CM000667.1:g.176707836del GRCh37
NC_000005.8:g.176640442del NCBI36
NG_009821.1:g.152757del , LRG_512:g.152757del

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.5019+1del
ENST00000347982.9:c.5019+1del
ENST00000354179.9:c.5019+1del
ENST00000503056.6:c.534+1del
ENST00000508029.6:c.534+1del
ENST00000685206.1:n.5475+1del
ENST00000686993.1:c.5019+1del
ENST00000687453.1:c.5583+1del
ENST00000688613.1:n.5289+1del
ENST00000689345.1:c.5019+1del
ENST00000689549.1:n.6039+1del
ENST00000692024.1:n.2812del
ENST00000439151.7:c.5892+1del
ENST00000347982.8:c.5085+1del
ENST00000354179.8:c.5085+1del
ENST00000439151.6:c.5892+1del
NM_022455.4:c.5892+1del , LRG_512t1:c.5892+1del
NM_172349.2:c.5085+1del
XM_005265959.1:c.5892+1del
XM_005265960.1:c.5085+1del
XM_005265961.1:c.5085+1del
XM_005265962.3:c.1386+1del
XM_011534610.1:c.5892+1del
XM_011534611.1:c.5892+1del
XM_011534612.1:c.5472+1del
XM_011534613.1:c.4836+1del
XM_011534617.1:c.1626+1del
NM_001365684.1:c.5085+1del
XM_024446150.1:c.5892+1del
XM_024446151.1:c.5892+1del
XM_024446152.1:c.5892+1del
XM_024446153.1:c.5892+1del
XM_024446154.1:c.5472+1del
XM_024446155.1:c.5085+1del
XM_024446156.1:c.5085+1del
XM_024446158.1:c.5085+1del
XM_024446159.1:c.4836+1del
XM_024446162.1:c.1626+1del
XM_024446163.1:c.1386+1del
NM_022455.5:c.5892+1del
NM_172349.3:c.5085+1del