Canonical Allele Identifier: CA1139659264

Gene: NSD1

Linked Data

• ClinVar Variation Id: 941828
• ClinVar RCV Id: RCV003232233
• dbSNP Id: rs1760072488

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294051_177294052delinsCT , CM000667.2:g.177294051_177294052delinsCT	GRCh38
NC_000005.9:g.176721052_176721053delinsCT , CM000667.1:g.176721052_176721053delinsCT	GRCh37
NC_000005.8:g.176653658_176653659delinsCT	NCBI36
NG_009821.1:g.165973_165974delinsCT , LRG_512:g.165973_165974delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5810_5811delinsCT	ENSP00000423372.3:p.Leu1937Pro
ENST00000347982.9:c.5810_5811delinsCT	ENSP00000343209.5:p.Leu1937Pro
ENST00000354179.9:c.5810_5811delinsCT	ENSP00000346111.5:p.Leu1937Pro
ENST00000503056.6:c.1325_1326delinsCT	ENSP00000424024.2:p.Leu442Pro
ENST00000508029.6:c.1325_1326delinsCT	ENSP00000425120.2:p.Leu442Pro
ENST00000685206.1:n.6266_6267delinsCT
ENST00000686385.1:n.1099_1100delinsCT
ENST00000686993.1:c.5810_5811delinsCT	ENSP00000510020.1:p.Leu1937Pro
ENST00000687453.1:c.6374_6375delinsCT	ENSP00000508426.1:p.Leu2125Pro
ENST00000688613.1:n.6080_6081delinsCT
ENST00000689345.1:c.5810_5811delinsCT	ENSP00000509711.1:p.Leu1937Pro
ENST00000439151.7:c.6683_6684delinsCT MANE Select	ENSP00000395929.2:p.Leu2228Pro
ENST00000347982.8:c.5876_5877delinsCT	ENSP00000343209.4:p.Leu1959Pro
ENST00000354179.8:c.5876_5877delinsCT	ENSP00000346111.4:p.Leu1959Pro
ENST00000439151.6:c.6683_6684delinsCT	ENSP00000395929.2:p.Leu2228Pro
NM_022455.4:c.6683_6684delinsCT , LRG_512t1:c.6683_6684delinsCT	NP_071900.2:p.Leu2228Pro
NM_172349.2:c.5876_5877delinsCT	NP_758859.1:p.Leu1959Pro
XM_005265959.1:c.6683_6684delinsCT	XP_005266016.1:p.Leu2228Pro
XM_005265960.1:c.5876_5877delinsCT	XP_005266017.1:p.Leu1959Pro
XM_005265961.1:c.5876_5877delinsCT	XP_005266018.1:p.Leu1959Pro
XM_005265962.3:c.2177_2178delinsCT	XP_005266019.1:p.Leu726Pro
XM_011534610.1:c.6683_6684delinsCT	XP_011532912.1:p.Leu2228Pro
XM_011534611.1:c.6683_6684delinsCT	XP_011532913.1:p.Leu2228Pro
XM_011534612.1:c.6263_6264delinsCT	XP_011532914.1:p.Leu2088Pro
XM_011534613.1:c.5627_5628delinsCT	XP_011532915.1:p.Leu1876Pro
XM_011534617.1:c.2417_2418delinsCT	XP_011532919.1:p.Leu806Pro
NM_001365684.1:c.5876_5877delinsCT	NP_001352613.1:p.Leu1959Pro
XM_024446150.1:c.6683_6684delinsCT	XP_024301918.1:p.Leu2228Pro
XM_024446151.1:c.6683_6684delinsCT	XP_024301919.1:p.Leu2228Pro
XM_024446152.1:c.6683_6684delinsCT	XP_024301920.1:p.Leu2228Pro
XM_024446153.1:c.6683_6684delinsCT	XP_024301921.1:p.Leu2228Pro
XM_024446154.1:c.6263_6264delinsCT	XP_024301922.1:p.Leu2088Pro
XM_024446155.1:c.5876_5877delinsCT	XP_024301923.1:p.Leu1959Pro
XM_024446156.1:c.5876_5877delinsCT	XP_024301924.1:p.Leu1959Pro
XM_024446158.1:c.5876_5877delinsCT	XP_024301926.1:p.Leu1959Pro
XM_024446159.1:c.5627_5628delinsCT	XP_024301927.1:p.Leu1876Pro
XM_024446162.1:c.2417_2418delinsCT	XP_024301930.1:p.Leu806Pro
XM_024446163.1:c.2177_2178delinsCT	XP_024301931.1:p.Leu726Pro
NM_022455.5:c.6683_6684delinsCT MANE Select	NP_071900.2:p.Leu2228Pro
NM_172349.3:c.5876_5877delinsCT	NP_758859.1:p.Leu1959Pro