Canonical Allele Identifier: CA2582341660
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585165
ClinVar RCV Id: RCV003337781

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177282544_177282545dup , CM000667.2:g.177282544_177282545dup GRCh38
NC_000005.9:g.176709545_176709546dup , CM000667.1:g.176709545_176709546dup GRCh37
NC_000005.8:g.176642151_176642152dup NCBI36
NG_009821.1:g.154466_154467dup , LRG_512:g.154466_154467dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.5099_5100dup ENSP00000423372.3:p.Asp1701MetfsTer11
ENST00000347982.9:c.5099_5100dup ENSP00000343209.5:p.Asp1701MetfsTer11
ENST00000354179.9:c.5099_5100dup ENSP00000346111.5:p.Asp1701MetfsTer11
ENST00000503056.6:c.614_615dup ENSP00000424024.2:p.Asp206MetfsTer11
ENST00000508029.6:c.614_615dup ENSP00000425120.2:p.Asp206MetfsTer11
ENST00000685206.1:n.5555_5556dup
ENST00000686993.1:c.5099_5100dup ENSP00000510020.1:p.Asp1701MetfsTer11
ENST00000687453.1:c.5663_5664dup ENSP00000508426.1:p.Asp1889MetfsTer11
ENST00000688613.1:n.5369_5370dup
ENST00000689345.1:c.5099_5100dup ENSP00000509711.1:p.Asp1701MetfsTer11
ENST00000689549.1:n.6119_6120dup
ENST00000692024.1:n.4521_4522dup
ENST00000439151.7:c.5972_5973dup MANE Select ENSP00000395929.2:p.Asp1992MetfsTer11
ENST00000347982.8:c.5165_5166dup ENSP00000343209.4:p.Asp1723MetfsTer11
ENST00000354179.8:c.5165_5166dup ENSP00000346111.4:p.Asp1723MetfsTer11
ENST00000439151.6:c.5972_5973dup ENSP00000395929.2:p.Asp1992MetfsTer11
NM_022455.4:c.5972_5973dup , LRG_512t1:c.5972_5973dup NP_071900.2:p.Asp1992MetfsTer11
NM_172349.2:c.5165_5166dup NP_758859.1:p.Asp1723MetfsTer11
XM_005265959.1:c.5972_5973dup XP_005266016.1:p.Asp1992MetfsTer11
XM_005265960.1:c.5165_5166dup XP_005266017.1:p.Asp1723MetfsTer11
XM_005265961.1:c.5165_5166dup XP_005266018.1:p.Asp1723MetfsTer11
XM_005265962.3:c.1466_1467dup XP_005266019.1:p.Asp490MetfsTer11
XM_011534610.1:c.5972_5973dup XP_011532912.1:p.Asp1992MetfsTer11
XM_011534611.1:c.5972_5973dup XP_011532913.1:p.Asp1992MetfsTer11
XM_011534612.1:c.5552_5553dup XP_011532914.1:p.Asp1852MetfsTer11
XM_011534613.1:c.4916_4917dup XP_011532915.1:p.Asp1640MetfsTer11
XM_011534617.1:c.1706_1707dup XP_011532919.1:p.Asp570MetfsTer11
NM_001365684.1:c.5165_5166dup NP_001352613.1:p.Asp1723MetfsTer11
XM_024446150.1:c.5972_5973dup XP_024301918.1:p.Asp1992MetfsTer11
XM_024446151.1:c.5972_5973dup XP_024301919.1:p.Asp1992MetfsTer11
XM_024446152.1:c.5972_5973dup XP_024301920.1:p.Asp1992MetfsTer11
XM_024446153.1:c.5972_5973dup XP_024301921.1:p.Asp1992MetfsTer11
XM_024446154.1:c.5552_5553dup XP_024301922.1:p.Asp1852MetfsTer11
XM_024446155.1:c.5165_5166dup XP_024301923.1:p.Asp1723MetfsTer11
XM_024446156.1:c.5165_5166dup XP_024301924.1:p.Asp1723MetfsTer11
XM_024446158.1:c.5165_5166dup XP_024301926.1:p.Asp1723MetfsTer11
XM_024446159.1:c.4916_4917dup XP_024301927.1:p.Asp1640MetfsTer11
XM_024446162.1:c.1706_1707dup XP_024301930.1:p.Asp570MetfsTer11
XM_024446163.1:c.1466_1467dup XP_024301931.1:p.Asp490MetfsTer11
NM_022455.5:c.5972_5973dup MANE Select NP_071900.2:p.Asp1992MetfsTer11
NM_172349.3:c.5165_5166dup NP_758859.1:p.Asp1723MetfsTer11