Canonical Allele Identifier: CA319689

Gene: NSD1

Linked Data

• ClinVar Variation Id: 211745
• ClinVar RCV Id: RCV003231399
• dbSNP Id: rs797045832
• MyVariant Identifiers: chr5:g.176719155_176719164del (hg19) ; chr5:g.177292154_177292163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177292154_177292163del , CM000667.2:g.177292154_177292163del	GRCh38
NC_000005.9:g.176719155_176719164del , CM000667.1:g.176719155_176719164del	GRCh37
NC_000005.8:g.176651761_176651770del	NCBI36
NG_009821.1:g.164076_164085del , LRG_512:g.164076_164085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5586_5590+5del
ENST00000347982.9:c.5586_5590+5del
ENST00000354179.9:c.5586_5590+5del
ENST00000503056.6:c.1101_1105+5del
ENST00000508029.6:c.1101_1105+5del
ENST00000685206.1:n.6042_6046+5del
ENST00000686385.1:n.875_879+5del
ENST00000686993.1:c.5586_5590+5del
ENST00000687453.1:c.6150_6154+5del
ENST00000688613.1:n.5856_5860+5del
ENST00000689345.1:c.5586_5590+5del
ENST00000439151.7:c.6459_6463+5del
ENST00000347982.8:c.5652_5656+5del
ENST00000354179.8:c.5652_5656+5del
ENST00000439151.6:c.6459_6463+5del
NM_022455.4:c.6459_6463+5del , LRG_512t1:c.6459_6463+5del
NM_172349.2:c.5652_5656+5del
XM_005265959.1:c.6459_6463+5del
XM_005265960.1:c.5652_5656+5del
XM_005265961.1:c.5652_5656+5del
XM_005265962.3:c.1953_1957+5del
XM_011534610.1:c.6459_6463+5del
XM_011534611.1:c.6459_6463+5del
XM_011534612.1:c.6039_6043+5del
XM_011534613.1:c.5403_5407+5del
XM_011534617.1:c.2193_2197+5del
NM_001365684.1:c.5652_5656+5del
XM_024446150.1:c.6459_6463+5del
XM_024446151.1:c.6459_6463+5del
XM_024446152.1:c.6459_6463+5del
XM_024446153.1:c.6459_6463+5del
XM_024446154.1:c.6039_6043+5del
XM_024446155.1:c.5652_5656+5del
XM_024446156.1:c.5652_5656+5del
XM_024446158.1:c.5652_5656+5del
XM_024446159.1:c.5403_5407+5del
XM_024446162.1:c.2193_2197+5del
XM_024446163.1:c.1953_1957+5del
NM_022455.5:c.6459_6463+5del
NM_172349.3:c.5652_5656+5del