Canonical Allele Identifier: CA2580614807

Gene: NSD1

Linked Data

• ClinVar Variation Id: 2025241
• ClinVar RCV Id: RCV003232698

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294131_177294133del , CM000667.2:g.177294131_177294133del	GRCh38
NC_000005.9:g.176721132_176721134del , CM000667.1:g.176721132_176721134del	GRCh37
NC_000005.8:g.176653738_176653740del	NCBI36
NG_009821.1:g.166053_166055del , LRG_512:g.166053_166055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5890_5892del	ENSP00000423372.3:p.Pro1964del
ENST00000347982.9:c.5890_5892del	ENSP00000343209.5:p.Pro1964del
ENST00000354179.9:c.5890_5892del	ENSP00000346111.5:p.Pro1964del
ENST00000503056.6:c.1405_1407del	ENSP00000424024.2:p.Pro469del
ENST00000508029.6:c.1405_1407del	ENSP00000425120.2:p.Pro469del
ENST00000685206.1:n.6346_6348del
ENST00000686385.1:n.1179_1181del
ENST00000686993.1:c.5890_5892del	ENSP00000510020.1:p.Pro1964del
ENST00000687453.1:c.6454_6456del	ENSP00000508426.1:p.Pro2152del
ENST00000688613.1:n.6160_6162del
ENST00000689345.1:c.5890_5892del	ENSP00000509711.1:p.Pro1964del
ENST00000439151.7:c.6763_6765del MANE Select	ENSP00000395929.2:p.Pro2255del
ENST00000347982.8:c.5956_5958del	ENSP00000343209.4:p.Pro1986del
ENST00000354179.8:c.5956_5958del	ENSP00000346111.4:p.Pro1986del
ENST00000439151.6:c.6763_6765del	ENSP00000395929.2:p.Pro2255del
NM_022455.4:c.6763_6765del , LRG_512t1:c.6763_6765del	NP_071900.2:p.Pro2255del
NM_172349.2:c.5956_5958del	NP_758859.1:p.Pro1986del
XM_005265959.1:c.6763_6765del	XP_005266016.1:p.Pro2255del
XM_005265960.1:c.5956_5958del	XP_005266017.1:p.Pro1986del
XM_005265961.1:c.5956_5958del	XP_005266018.1:p.Pro1986del
XM_005265962.3:c.2257_2259del	XP_005266019.1:p.Pro753del
XM_011534610.1:c.6763_6765del	XP_011532912.1:p.Pro2255del
XM_011534611.1:c.6763_6765del	XP_011532913.1:p.Pro2255del
XM_011534612.1:c.6343_6345del	XP_011532914.1:p.Pro2115del
XM_011534613.1:c.5707_5709del	XP_011532915.1:p.Pro1903del
XM_011534617.1:c.2497_2499del	XP_011532919.1:p.Pro833del
NM_001365684.1:c.5956_5958del	NP_001352613.1:p.Pro1986del
XM_024446150.1:c.6763_6765del	XP_024301918.1:p.Pro2255del
XM_024446151.1:c.6763_6765del	XP_024301919.1:p.Pro2255del
XM_024446152.1:c.6763_6765del	XP_024301920.1:p.Pro2255del
XM_024446153.1:c.6763_6765del	XP_024301921.1:p.Pro2255del
XM_024446154.1:c.6343_6345del	XP_024301922.1:p.Pro2115del
XM_024446155.1:c.5956_5958del	XP_024301923.1:p.Pro1986del
XM_024446156.1:c.5956_5958del	XP_024301924.1:p.Pro1986del
XM_024446158.1:c.5956_5958del	XP_024301926.1:p.Pro1986del
XM_024446159.1:c.5707_5709del	XP_024301927.1:p.Pro1903del
XM_024446162.1:c.2497_2499del	XP_024301930.1:p.Pro833del
XM_024446163.1:c.2257_2259del	XP_024301931.1:p.Pro753del
NM_022455.5:c.6763_6765del MANE Select	NP_071900.2:p.Pro2255del
NM_172349.3:c.5956_5958del	NP_758859.1:p.Pro1986del