Canonical Allele Identifier: CA2711007379

Gene: NSD1

Linked Data

• dbSNP Id: rs2127260902

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177282559_177282568del , CM000667.2:g.177282559_177282568del	GRCh38
NC_000005.9:g.176709560_176709569del , CM000667.1:g.176709560_176709569del	GRCh37
NC_000005.8:g.176642166_176642175del	NCBI36
NG_009821.1:g.154481_154490del , LRG_512:g.154481_154490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5114_5123del	ENSP00000423372.3:p.Phe1705SerfsTer3
ENST00000347982.9:c.5114_5123del	ENSP00000343209.5:p.Phe1705SerfsTer3
ENST00000354179.9:c.5114_5123del	ENSP00000346111.5:p.Phe1705SerfsTer3
ENST00000503056.6:c.629_638del	ENSP00000424024.2:p.Phe210SerfsTer3
ENST00000508029.6:c.629_638del	ENSP00000425120.2:p.Phe210SerfsTer3
ENST00000685206.1:n.5570_5579del
ENST00000686993.1:c.5114_5123del	ENSP00000510020.1:p.Phe1705SerfsTer3
ENST00000687453.1:c.5678_5687del	ENSP00000508426.1:p.Phe1893SerfsTer3
ENST00000688613.1:n.5384_5393del
ENST00000689345.1:c.5114_5123del	ENSP00000509711.1:p.Phe1705SerfsTer3
ENST00000689549.1:n.6134_6143del
ENST00000692024.1:n.4536_4545del
ENST00000439151.7:c.5987_5996del MANE Select	ENSP00000395929.2:p.Phe1996SerfsTer3
ENST00000347982.8:c.5180_5189del	ENSP00000343209.4:p.Phe1727SerfsTer3
ENST00000354179.8:c.5180_5189del	ENSP00000346111.4:p.Phe1727SerfsTer3
ENST00000439151.6:c.5987_5996del	ENSP00000395929.2:p.Phe1996SerfsTer3
NM_022455.4:c.5987_5996del , LRG_512t1:c.5987_5996del	NP_071900.2:p.Phe1996SerfsTer3
NM_172349.2:c.5180_5189del	NP_758859.1:p.Phe1727SerfsTer3
XM_005265959.1:c.5987_5996del	XP_005266016.1:p.Phe1996SerfsTer3
XM_005265960.1:c.5180_5189del	XP_005266017.1:p.Phe1727SerfsTer3
XM_005265961.1:c.5180_5189del	XP_005266018.1:p.Phe1727SerfsTer3
XM_005265962.3:c.1481_1490del	XP_005266019.1:p.Phe494SerfsTer3
XM_011534610.1:c.5987_5996del	XP_011532912.1:p.Phe1996SerfsTer3
XM_011534611.1:c.5987_5996del	XP_011532913.1:p.Phe1996SerfsTer3
XM_011534612.1:c.5567_5576del	XP_011532914.1:p.Phe1856SerfsTer3
XM_011534613.1:c.4931_4940del	XP_011532915.1:p.Phe1644SerfsTer3
XM_011534617.1:c.1721_1730del	XP_011532919.1:p.Phe574SerfsTer3
NM_001365684.1:c.5180_5189del	NP_001352613.1:p.Phe1727SerfsTer3
XM_024446150.1:c.5987_5996del	XP_024301918.1:p.Phe1996SerfsTer3
XM_024446151.1:c.5987_5996del	XP_024301919.1:p.Phe1996SerfsTer3
XM_024446152.1:c.5987_5996del	XP_024301920.1:p.Phe1996SerfsTer3
XM_024446153.1:c.5987_5996del	XP_024301921.1:p.Phe1996SerfsTer3
XM_024446154.1:c.5567_5576del	XP_024301922.1:p.Phe1856SerfsTer3
XM_024446155.1:c.5180_5189del	XP_024301923.1:p.Phe1727SerfsTer3
XM_024446156.1:c.5180_5189del	XP_024301924.1:p.Phe1727SerfsTer3
XM_024446158.1:c.5180_5189del	XP_024301926.1:p.Phe1727SerfsTer3
XM_024446159.1:c.4931_4940del	XP_024301927.1:p.Phe1644SerfsTer3
XM_024446162.1:c.1721_1730del	XP_024301930.1:p.Phe574SerfsTer3
XM_024446163.1:c.1481_1490del	XP_024301931.1:p.Phe494SerfsTer3
NM_022455.5:c.5987_5996del MANE Select	NP_071900.2:p.Phe1996SerfsTer3
NM_172349.3:c.5180_5189del	NP_758859.1:p.Phe1727SerfsTer3