Canonical Allele Identifier: CA16042601
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372814
ClinVar RCV Id: RCV000414751
dbSNP Id: rs1057517998

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177294333dup , CM000667.2:g.177294333dup GRCh38
NC_000005.9:g.176721334dup , CM000667.1:g.176721334dup GRCh37
NC_000005.8:g.176653940dup NCBI36
NG_009821.1:g.166255dup , LRG_512:g.166255dup

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.6092dup ENSP00000423372.3:p.Ala2032GlyfsTer?
ENST00000347982.9:c.6092dup ENSP00000343209.5:p.Ala2032GlyfsTer?
ENST00000354179.9:c.6092dup ENSP00000346111.5:p.Ala2032GlyfsTer?
ENST00000503056.6:c.1607dup ENSP00000424024.2:p.Ala537GlyfsTer?
ENST00000508029.6:c.1607dup ENSP00000425120.2:p.Ala537GlyfsTer?
ENST00000685206.1:n.6548dup
ENST00000686385.1:n.1381dup
ENST00000686993.1:c.6092dup ENSP00000510020.1:p.Ala2032GlyfsTer?
ENST00000687453.1:c.6656dup ENSP00000508426.1:p.Ala2220GlyfsTer?
ENST00000688613.1:n.6362dup
ENST00000689345.1:c.6092dup ENSP00000509711.1:p.Ala2032GlyfsTer?
ENST00000439151.7:c.6965dup MANE Select ENSP00000395929.2:p.Ala2323GlyfsTer?
ENST00000347982.8:c.6158dup ENSP00000343209.4:p.Ala2054GlyfsTer?
ENST00000354179.8:c.6158dup ENSP00000346111.4:p.Ala2054GlyfsTer?
ENST00000439151.6:c.6965dup ENSP00000395929.2:p.Ala2323GlyfsTer?
NM_022455.4:c.6965dup , LRG_512t1:c.6965dup NP_071900.2:p.Ala2323GlyfsTer?
NM_172349.2:c.6158dup NP_758859.1:p.Ala2054GlyfsTer?
XM_005265959.1:c.6965dup XP_005266016.1:p.Ala2323GlyfsTer?
XM_005265960.1:c.6158dup XP_005266017.1:p.Ala2054GlyfsTer?
XM_005265961.1:c.6158dup XP_005266018.1:p.Ala2054GlyfsTer?
XM_005265962.3:c.2459dup XP_005266019.1:p.Ala821GlyfsTer?
XM_011534610.1:c.6965dup XP_011532912.1:p.Ala2323GlyfsTer?
XM_011534611.1:c.6965dup XP_011532913.1:p.Ala2323GlyfsTer?
XM_011534612.1:c.6545dup XP_011532914.1:p.Ala2183GlyfsTer?
XM_011534613.1:c.5909dup XP_011532915.1:p.Ala1971GlyfsTer?
XM_011534617.1:c.2699dup XP_011532919.1:p.Ala901GlyfsTer?
NM_001365684.1:c.6158dup NP_001352613.1:p.Ala2054GlyfsTer?
XM_024446150.1:c.6965dup XP_024301918.1:p.Ala2323GlyfsTer?
XM_024446151.1:c.6965dup XP_024301919.1:p.Ala2323GlyfsTer?
XM_024446152.1:c.6965dup XP_024301920.1:p.Ala2323GlyfsTer?
XM_024446153.1:c.6965dup XP_024301921.1:p.Ala2323GlyfsTer?
XM_024446154.1:c.6545dup XP_024301922.1:p.Ala2183GlyfsTer?
XM_024446155.1:c.6158dup XP_024301923.1:p.Ala2054GlyfsTer?
XM_024446156.1:c.6158dup XP_024301924.1:p.Ala2054GlyfsTer?
XM_024446158.1:c.6158dup XP_024301926.1:p.Ala2054GlyfsTer?
XM_024446159.1:c.5909dup XP_024301927.1:p.Ala1971GlyfsTer?
XM_024446162.1:c.2699dup XP_024301930.1:p.Ala901GlyfsTer?
XM_024446163.1:c.2459dup XP_024301931.1:p.Ala821GlyfsTer?
NM_022455.5:c.6965dup MANE Select NP_071900.2:p.Ala2323GlyfsTer?
NM_172349.3:c.6158dup NP_758859.1:p.Ala2054GlyfsTer?