Canonical Allele Identifier: CA564898970

Gene: NSD1

Linked Data

• dbSNP Id: rs1174276762
• gnomAD v2: 5-176721213-CCTCTTGAGAGAACTGA-C
• gnomAD v4: 5-177294212-CCTCTTGAGAGAACTGA-C
• MyVariant Identifiers: chr5:g.176721214_176721229del (hg19) ; chr5:g.177294213_177294228del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294216_177294231del , CM000667.2:g.177294216_177294231del	GRCh38
NC_000005.9:g.176721217_176721232del , CM000667.1:g.176721217_176721232del	GRCh37
NC_000005.8:g.176653823_176653838del	NCBI36
NG_009821.1:g.166138_166153del , LRG_512:g.166138_166153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5975_5990del	ENSP00000423372.3:p.Leu1992ProfsTer6
ENST00000347982.9:c.5975_5990del	ENSP00000343209.5:p.Leu1992ProfsTer6
ENST00000354179.9:c.5975_5990del	ENSP00000346111.5:p.Leu1992ProfsTer6
ENST00000503056.6:c.1490_1505del	ENSP00000424024.2:p.Leu497ProfsTer6
ENST00000508029.6:c.1490_1505del	ENSP00000425120.2:p.Leu497ProfsTer6
ENST00000685206.1:n.6431_6446del
ENST00000686385.1:n.1264_1279del
ENST00000686993.1:c.5975_5990del	ENSP00000510020.1:p.Leu1992ProfsTer6
ENST00000687453.1:c.6539_6554del	ENSP00000508426.1:p.Leu2180ProfsTer6
ENST00000688613.1:n.6245_6260del
ENST00000689345.1:c.5975_5990del	ENSP00000509711.1:p.Leu1992ProfsTer6
ENST00000439151.7:c.6848_6863del MANE Select	ENSP00000395929.2:p.Leu2283ProfsTer6
ENST00000347982.8:c.6041_6056del	ENSP00000343209.4:p.Leu2014ProfsTer6
ENST00000354179.8:c.6041_6056del	ENSP00000346111.4:p.Leu2014ProfsTer6
ENST00000439151.6:c.6848_6863del	ENSP00000395929.2:p.Leu2283ProfsTer6
NM_022455.4:c.6848_6863del , LRG_512t1:c.6848_6863del	NP_071900.2:p.Leu2283ProfsTer6
NM_172349.2:c.6041_6056del	NP_758859.1:p.Leu2014ProfsTer6
XM_005265959.1:c.6848_6863del	XP_005266016.1:p.Leu2283ProfsTer6
XM_005265960.1:c.6041_6056del	XP_005266017.1:p.Leu2014ProfsTer6
XM_005265961.1:c.6041_6056del	XP_005266018.1:p.Leu2014ProfsTer6
XM_005265962.3:c.2342_2357del	XP_005266019.1:p.Leu781ProfsTer6
XM_011534610.1:c.6848_6863del	XP_011532912.1:p.Leu2283ProfsTer6
XM_011534611.1:c.6848_6863del	XP_011532913.1:p.Leu2283ProfsTer6
XM_011534612.1:c.6428_6443del	XP_011532914.1:p.Leu2143ProfsTer6
XM_011534613.1:c.5792_5807del	XP_011532915.1:p.Leu1931ProfsTer6
XM_011534617.1:c.2582_2597del	XP_011532919.1:p.Leu861ProfsTer6
NM_001365684.1:c.6041_6056del	NP_001352613.1:p.Leu2014ProfsTer6
XM_024446150.1:c.6848_6863del	XP_024301918.1:p.Leu2283ProfsTer6
XM_024446151.1:c.6848_6863del	XP_024301919.1:p.Leu2283ProfsTer6
XM_024446152.1:c.6848_6863del	XP_024301920.1:p.Leu2283ProfsTer6
XM_024446153.1:c.6848_6863del	XP_024301921.1:p.Leu2283ProfsTer6
XM_024446154.1:c.6428_6443del	XP_024301922.1:p.Leu2143ProfsTer6
XM_024446155.1:c.6041_6056del	XP_024301923.1:p.Leu2014ProfsTer6
XM_024446156.1:c.6041_6056del	XP_024301924.1:p.Leu2014ProfsTer6
XM_024446158.1:c.6041_6056del	XP_024301926.1:p.Leu2014ProfsTer6
XM_024446159.1:c.5792_5807del	XP_024301927.1:p.Leu1931ProfsTer6
XM_024446162.1:c.2582_2597del	XP_024301930.1:p.Leu861ProfsTer6
XM_024446163.1:c.2342_2357del	XP_024301931.1:p.Leu781ProfsTer6
NM_022455.5:c.6848_6863del MANE Select	NP_071900.2:p.Leu2283ProfsTer6
NM_172349.3:c.6041_6056del	NP_758859.1:p.Leu2014ProfsTer6