Canonical Allele Identifier: CA2711005654

Gene: NSD1

Linked Data

• dbSNP Id: rs2127260482

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177282489_177282492del , CM000667.2:g.177282489_177282492del	GRCh38
NC_000005.9:g.176709490_176709493del , CM000667.1:g.176709490_176709493del	GRCh37
NC_000005.8:g.176642096_176642099del	NCBI36
NG_009821.1:g.154411_154414del , LRG_512:g.154411_154414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5044_5047del	ENSP00000423372.3:p.Gly1682SerfsTer3
ENST00000347982.9:c.5044_5047del	ENSP00000343209.5:p.Gly1682SerfsTer3
ENST00000354179.9:c.5044_5047del	ENSP00000346111.5:p.Gly1682SerfsTer3
ENST00000503056.6:c.559_562del	ENSP00000424024.2:p.Gly187SerfsTer3
ENST00000508029.6:c.559_562del	ENSP00000425120.2:p.Gly187SerfsTer3
ENST00000685206.1:n.5500_5503del
ENST00000686993.1:c.5044_5047del	ENSP00000510020.1:p.Gly1682SerfsTer3
ENST00000687453.1:c.5608_5611del	ENSP00000508426.1:p.Gly1870SerfsTer3
ENST00000688613.1:n.5314_5317del
ENST00000689345.1:c.5044_5047del	ENSP00000509711.1:p.Gly1682SerfsTer3
ENST00000689549.1:n.6064_6067del
ENST00000692024.1:n.4466_4469del
ENST00000439151.7:c.5917_5920del MANE Select	ENSP00000395929.2:p.Gly1973SerfsTer3
ENST00000347982.8:c.5110_5113del	ENSP00000343209.4:p.Gly1704SerfsTer3
ENST00000354179.8:c.5110_5113del	ENSP00000346111.4:p.Gly1704SerfsTer3
ENST00000439151.6:c.5917_5920del	ENSP00000395929.2:p.Gly1973SerfsTer3
NM_022455.4:c.5917_5920del , LRG_512t1:c.5917_5920del	NP_071900.2:p.Gly1973SerfsTer3
NM_172349.2:c.5110_5113del	NP_758859.1:p.Gly1704SerfsTer3
XM_005265959.1:c.5917_5920del	XP_005266016.1:p.Gly1973SerfsTer3
XM_005265960.1:c.5110_5113del	XP_005266017.1:p.Gly1704SerfsTer3
XM_005265961.1:c.5110_5113del	XP_005266018.1:p.Gly1704SerfsTer3
XM_005265962.3:c.1411_1414del	XP_005266019.1:p.Gly471SerfsTer3
XM_011534610.1:c.5917_5920del	XP_011532912.1:p.Gly1973SerfsTer3
XM_011534611.1:c.5917_5920del	XP_011532913.1:p.Gly1973SerfsTer3
XM_011534612.1:c.5497_5500del	XP_011532914.1:p.Gly1833SerfsTer3
XM_011534613.1:c.4861_4864del	XP_011532915.1:p.Gly1621SerfsTer3
XM_011534617.1:c.1651_1654del	XP_011532919.1:p.Gly551SerfsTer3
NM_001365684.1:c.5110_5113del	NP_001352613.1:p.Gly1704SerfsTer3
XM_024446150.1:c.5917_5920del	XP_024301918.1:p.Gly1973SerfsTer3
XM_024446151.1:c.5917_5920del	XP_024301919.1:p.Gly1973SerfsTer3
XM_024446152.1:c.5917_5920del	XP_024301920.1:p.Gly1973SerfsTer3
XM_024446153.1:c.5917_5920del	XP_024301921.1:p.Gly1973SerfsTer3
XM_024446154.1:c.5497_5500del	XP_024301922.1:p.Gly1833SerfsTer3
XM_024446155.1:c.5110_5113del	XP_024301923.1:p.Gly1704SerfsTer3
XM_024446156.1:c.5110_5113del	XP_024301924.1:p.Gly1704SerfsTer3
XM_024446158.1:c.5110_5113del	XP_024301926.1:p.Gly1704SerfsTer3
XM_024446159.1:c.4861_4864del	XP_024301927.1:p.Gly1621SerfsTer3
XM_024446162.1:c.1651_1654del	XP_024301930.1:p.Gly551SerfsTer3
XM_024446163.1:c.1411_1414del	XP_024301931.1:p.Gly471SerfsTer3
NM_022455.5:c.5917_5920del MANE Select	NP_071900.2:p.Gly1973SerfsTer3
NM_172349.3:c.5110_5113del	NP_758859.1:p.Gly1704SerfsTer3