Canonical Allele Identifier: CA658822924

Gene: NSD1

Linked Data

• ClinVar Variation Id: 547720
• ClinVar RCV Id: RCV003231569
• dbSNP Id: rs1554189972
• MyVariant Identifiers: chr5:g.176638436_176638454dup (hg19) ; chr5:g.177211435_177211453dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177211435_177211453dup , CM000667.2:g.177211435_177211453dup	GRCh38
NC_000005.9:g.176638436_176638454dup , CM000667.1:g.176638436_176638454dup	GRCh37
NC_000005.8:g.176571042_176571060dup	NCBI36
NG_009821.1:g.83357_83375dup , LRG_512:g.83357_83375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.2163_2181dup	ENSP00000423372.3:p.Arg728PhefsTer6
ENST00000347982.9:c.2163_2181dup	ENSP00000343209.5:p.Arg728PhefsTer6
ENST00000354179.9:c.2163_2181dup	ENSP00000346111.5:p.Arg728PhefsTer6
ENST00000510954.6:n.612+7143_612+7161dup
ENST00000685206.1:n.2619_2637dup
ENST00000686993.1:c.2163_2181dup	ENSP00000510020.1:p.Arg728PhefsTer6
ENST00000687453.1:c.2727_2745dup	ENSP00000508426.1:p.Arg916PhefsTer6
ENST00000688613.1:n.2433_2451dup
ENST00000689326.1:c.3036_3054dup	ENSP00000509594.1:p.Arg1019PhefsTer6
ENST00000689345.1:c.2163_2181dup	ENSP00000509711.1:p.Arg728PhefsTer6
ENST00000689549.1:n.3183_3201dup
ENST00000439151.7:c.3036_3054dup MANE Select	ENSP00000395929.2:p.Arg1019PhefsTer6
ENST00000347982.8:c.2229_2247dup	ENSP00000343209.4:p.Arg750PhefsTer6
ENST00000354179.8:c.2229_2247dup	ENSP00000346111.4:p.Arg750PhefsTer6
ENST00000439151.6:c.3036_3054dup	ENSP00000395929.2:p.Arg1019PhefsTer6
NM_022455.4:c.3036_3054dup , LRG_512t1:c.3036_3054dup	NP_071900.2:p.Arg1019PhefsTer6
NM_172349.2:c.2229_2247dup	NP_758859.1:p.Arg750PhefsTer6
XM_005265959.1:c.3036_3054dup	XP_005266016.1:p.Arg1019PhefsTer6
XM_005265960.1:c.2229_2247dup	XP_005266017.1:p.Arg750PhefsTer6
XM_005265961.1:c.2229_2247dup	XP_005266018.1:p.Arg750PhefsTer6
XM_011534610.1:c.3036_3054dup	XP_011532912.1:p.Arg1019PhefsTer6
XM_011534611.1:c.3036_3054dup	XP_011532913.1:p.Arg1019PhefsTer6
XM_011534612.1:c.2616_2634dup	XP_011532914.1:p.Arg879PhefsTer6
XM_011534613.1:c.1980_1998dup	XP_011532915.1:p.Arg667PhefsTer6
XM_011534614.1:c.3036_3054dup	XP_011532916.1:p.Arg1019PhefsTer6
XM_011534615.1:c.3036_3054dup	XP_011532917.1:p.Arg1019PhefsTer6
XM_011534616.1:c.3036_3054dup	XP_011532918.1:p.Arg1019PhefsTer6
NM_001365684.1:c.2229_2247dup	NP_001352613.1:p.Arg750PhefsTer6
XM_024446150.1:c.3036_3054dup	XP_024301918.1:p.Arg1019PhefsTer6
XM_024446151.1:c.3036_3054dup	XP_024301919.1:p.Arg1019PhefsTer6
XM_024446152.1:c.3036_3054dup	XP_024301920.1:p.Arg1019PhefsTer6
XM_024446153.1:c.3036_3054dup	XP_024301921.1:p.Arg1019PhefsTer6
XM_024446154.1:c.2616_2634dup	XP_024301922.1:p.Arg879PhefsTer6
XM_024446155.1:c.2229_2247dup	XP_024301923.1:p.Arg750PhefsTer6
XM_024446156.1:c.2229_2247dup	XP_024301924.1:p.Arg750PhefsTer6
XM_024446158.1:c.2229_2247dup	XP_024301926.1:p.Arg750PhefsTer6
XM_024446159.1:c.1980_1998dup	XP_024301927.1:p.Arg667PhefsTer6
XM_024446160.1:c.3036_3054dup	XP_024301928.1:p.Arg1019PhefsTer6
XM_024446161.1:c.3036_3054dup	XP_024301929.1:p.Arg1019PhefsTer6
XM_024446162.1:c.-960_-942dup	XP_024301930.1:n.-960_-942dup
NM_022455.5:c.3036_3054dup MANE Select	NP_071900.2:p.Arg1019PhefsTer6
NM_172349.3:c.2229_2247dup	NP_758859.1:p.Arg750PhefsTer6