Canonical Allele Identifier: CA16618187
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419672
ClinVar RCV Id: RCV000480835
dbSNP Id: rs1064794033

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177295402del , CM000667.2:g.177295402del GRCh38
NC_000005.9:g.176722403del , CM000667.1:g.176722403del GRCh37
NC_000005.8:g.176655009del NCBI36
NG_009821.1:g.167324del , LRG_512:g.167324del

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.7161del ENSP00000423372.3:p.Pro2388GlnfsTer?
ENST00000347982.9:c.7161del ENSP00000343209.5:p.Pro2388GlnfsTer?
ENST00000354179.9:c.7161del ENSP00000346111.5:p.Pro2388GlnfsTer?
ENST00000503056.6:c.2676del ENSP00000424024.2:p.Pro893GlnfsTer?
ENST00000508029.6:c.2676del ENSP00000425120.2:p.Pro893GlnfsTer?
ENST00000685206.1:n.7617del
ENST00000686385.1:n.2450del
ENST00000686993.1:c.7161del ENSP00000510020.1:p.Pro2388GlnfsTer?
ENST00000687453.1:c.7725del ENSP00000508426.1:p.Pro2576GlnfsTer?
ENST00000688613.1:n.7431del
ENST00000689345.1:c.7161del ENSP00000509711.1:p.Pro2388GlnfsTer?
ENST00000439151.7:c.8034del MANE Select ENSP00000395929.2:p.Pro2679GlnfsTer?
ENST00000347982.8:c.7227del ENSP00000343209.4:p.Pro2410GlnfsTer?
ENST00000354179.8:c.7227del ENSP00000346111.4:p.Pro2410GlnfsTer?
ENST00000439151.6:c.8034del ENSP00000395929.2:p.Pro2679GlnfsTer?
NM_022455.4:c.8034del , LRG_512t1:c.8034del NP_071900.2:p.Pro2679GlnfsTer?
NM_172349.2:c.7227del NP_758859.1:p.Pro2410GlnfsTer?
XM_005265959.1:c.8034del XP_005266016.1:p.Pro2679GlnfsTer?
XM_005265960.1:c.7227del XP_005266017.1:p.Pro2410GlnfsTer?
XM_005265961.1:c.7227del XP_005266018.1:p.Pro2410GlnfsTer?
XM_005265962.3:c.3528del XP_005266019.1:p.Pro1177GlnfsTer?
XM_011534610.1:c.8034del XP_011532912.1:p.Pro2679GlnfsTer?
XM_011534611.1:c.8034del XP_011532913.1:p.Pro2679GlnfsTer?
XM_011534612.1:c.7614del XP_011532914.1:p.Pro2539GlnfsTer?
XM_011534613.1:c.6978del XP_011532915.1:p.Pro2327GlnfsTer?
XM_011534617.1:c.3768del XP_011532919.1:p.Pro1257GlnfsTer?
NM_001365684.1:c.7227del NP_001352613.1:p.Pro2410GlnfsTer?
XM_024446150.1:c.8034del XP_024301918.1:p.Pro2679GlnfsTer?
XM_024446151.1:c.8034del XP_024301919.1:p.Pro2679GlnfsTer?
XM_024446152.1:c.8034del XP_024301920.1:p.Pro2679GlnfsTer?
XM_024446153.1:c.8034del XP_024301921.1:p.Pro2679GlnfsTer?
XM_024446154.1:c.7614del XP_024301922.1:p.Pro2539GlnfsTer?
XM_024446155.1:c.7227del XP_024301923.1:p.Pro2410GlnfsTer?
XM_024446156.1:c.7227del XP_024301924.1:p.Pro2410GlnfsTer?
XM_024446158.1:c.7227del XP_024301926.1:p.Pro2410GlnfsTer?
XM_024446159.1:c.6978del XP_024301927.1:p.Pro2327GlnfsTer?
XM_024446162.1:c.3768del XP_024301930.1:p.Pro1257GlnfsTer?
XM_024446163.1:c.3528del XP_024301931.1:p.Pro1177GlnfsTer?
NM_022455.5:c.8034del MANE Select NP_071900.2:p.Pro2679GlnfsTer?
NM_172349.3:c.7227del NP_758859.1:p.Pro2410GlnfsTer?