Canonical Allele Identifier: CA294902
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159343
ClinVar RCV Id: RCV003231243
dbSNP Id: rs587784125

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177251833del , CM000667.2:g.177251833del GRCh38
NC_000005.9:g.176678834del , CM000667.1:g.176678834del GRCh37
NC_000005.8:g.176611440del NCBI36
NG_009821.1:g.123755del , LRG_512:g.123755del

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.3872del ENSP00000423372.3:p.Ile1291ThrfsTer?
ENST00000347982.9:c.3872del ENSP00000343209.5:p.Ile1291ThrfsTer?
ENST00000354179.9:c.3872del ENSP00000346111.5:p.Ile1291ThrfsTer?
ENST00000685206.1:n.4328del
ENST00000686993.1:c.3872del ENSP00000510020.1:p.Ile1291ThrfsTer?
ENST00000687453.1:c.4436del ENSP00000508426.1:p.Ile1479ThrfsTer?
ENST00000688613.1:n.4142del
ENST00000689345.1:c.3872del ENSP00000509711.1:p.Ile1291ThrfsTer?
ENST00000689549.1:n.4892del
ENST00000439151.7:c.4745del MANE Select ENSP00000395929.2:p.Ile1582ThrfsTer?
ENST00000347982.8:c.3938del ENSP00000343209.4:p.Ile1313ThrfsTer?
ENST00000354179.8:c.3938del ENSP00000346111.4:p.Ile1313ThrfsTer?
ENST00000439151.6:c.4745del ENSP00000395929.2:p.Ile1582ThrfsTer?
NM_022455.4:c.4745del , LRG_512t1:c.4745del NP_071900.2:p.Ile1582ThrfsTer?
NM_172349.2:c.3938del NP_758859.1:p.Ile1313ThrfsTer?
XM_005265959.1:c.4745del XP_005266016.1:p.Ile1582ThrfsTer?
XM_005265960.1:c.3938del XP_005266017.1:p.Ile1313ThrfsTer?
XM_005265961.1:c.3938del XP_005266018.1:p.Ile1313ThrfsTer?
XM_005265962.3:c.239del XP_005266019.1:p.Ile80ThrfsTer?
XM_011534610.1:c.4745del XP_011532912.1:p.Ile1582ThrfsTer?
XM_011534611.1:c.4745del XP_011532913.1:p.Ile1582ThrfsTer?
XM_011534612.1:c.4325del XP_011532914.1:p.Ile1442ThrfsTer?
XM_011534613.1:c.3689del XP_011532915.1:p.Ile1230ThrfsTer?
XM_011534614.1:c.4745del XP_011532916.1:p.Ile1582ThrfsTer?
XM_011534617.1:c.479del XP_011532919.1:p.Ile160ThrfsTer?
NM_001365684.1:c.3938del NP_001352613.1:p.Ile1313ThrfsTer?
XM_024446150.1:c.4745del XP_024301918.1:p.Ile1582ThrfsTer?
XM_024446151.1:c.4745del XP_024301919.1:p.Ile1582ThrfsTer?
XM_024446152.1:c.4745del XP_024301920.1:p.Ile1582ThrfsTer?
XM_024446153.1:c.4745del XP_024301921.1:p.Ile1582ThrfsTer?
XM_024446154.1:c.4325del XP_024301922.1:p.Ile1442ThrfsTer?
XM_024446155.1:c.3938del XP_024301923.1:p.Ile1313ThrfsTer?
XM_024446156.1:c.3938del XP_024301924.1:p.Ile1313ThrfsTer?
XM_024446158.1:c.3938del XP_024301926.1:p.Ile1313ThrfsTer?
XM_024446159.1:c.3689del XP_024301927.1:p.Ile1230ThrfsTer?
XM_024446160.1:c.4745del XP_024301928.1:p.Ile1582ThrfsTer?
XM_024446162.1:c.479del XP_024301930.1:p.Ile160ThrfsTer?
XM_024446163.1:c.239del XP_024301931.1:p.Ile80ThrfsTer?
NM_022455.5:c.4745del MANE Select NP_071900.2:p.Ile1582ThrfsTer?
NM_172349.3:c.3938del NP_758859.1:p.Ile1313ThrfsTer?