Canonical Allele Identifier: CA917647843

Gene: NSD1

Linked Data

• ClinVar Variation Id: 1507977
• ClinVar RCV Id: RCV002463102 ; RCV003408078 ; RCV003232512
• dbSNP Id: rs1562098870
• gnomAD v3: 5-177135747-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177135752_177135753del , CM000667.2:g.177135752_177135753del	GRCh38
NC_000005.9:g.176562753_176562754del , CM000667.1:g.176562753_176562754del	GRCh37
NC_000005.8:g.176495359_176495360del	NCBI36
NG_009821.1:g.7674_7675del , LRG_512:g.7674_7675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.-36-189_-36-188del	ENSP00000423372.3:n.-36-189_-36-188del
ENST00000347982.9:c.-36-189_-36-188del	ENSP00000343209.5:n.-36-189_-36-188del
ENST00000354179.9:c.-36-189_-36-188del	ENSP00000346111.5:n.-36-189_-36-188del
ENST00000508896.6:c.-36-189_-36-188del	ENSP00000423372.2:n.-36-189_-36-188del
ENST00000510954.6:n.214-189_214-188del
ENST00000511258.6:c.-36-189_-36-188del	ENSP00000426428.2:n.-36-189_-36-188del
ENST00000638627.3:c.-254-189_-254-188del	ENSP00000492679.3:n.-254-189_-254-188del
ENST00000644863.2:c.-470-189_-470-188del	ENSP00000496157.2:n.-470-189_-470-188del
ENST00000685206.1:n.66-189_66-188del
ENST00000686993.1:c.-36-189_-36-188del	ENSP00000510020.1:n.-36-189_-36-188del
ENST00000687453.1:c.649_650del	ENSP00000508426.1:p.Ser217Ter
ENST00000688613.1:n.235-189_235-188del
ENST00000689326.1:c.649_650del	ENSP00000509594.1:p.Ser217Ter
ENST00000689345.1:c.-36-189_-36-188del	ENSP00000509711.1:n.-36-189_-36-188del
ENST00000689549.1:n.796_797del
ENST00000439151.7:c.649_650del MANE Select	ENSP00000395929.2:p.Ser217Ter
ENST00000638627.2:c.31-189_31-188del	ENSP00000492679.2:n.31-189_31-188del
ENST00000644863.1:c.31-189_31-188del	ENSP00000496157.1:n.31-189_31-188del
ENST00000347982.8:c.31-189_31-188del	ENSP00000343209.4:n.31-189_31-188del
ENST00000354179.8:c.31-189_31-188del	ENSP00000346111.4:n.31-189_31-188del
ENST00000439151.6:c.649_650del	ENSP00000395929.2:p.Ser217Ter
ENST00000508896.5:c.31-189_31-188del	ENSP00000423372.1:n.31-189_31-188del
ENST00000510954.5:c.31-189_31-188del	ENSP00000423982.1:n.31-189_31-188del
ENST00000511258.5:c.31-189_31-188del	ENSP00000426428.1:n.31-189_31-188del
ENST00000602285.1:n.821_822del
NM_022455.4:c.649_650del , LRG_512t1:c.649_650del	NP_071900.2:p.Ser217Ter
NM_172349.2:c.31-189_31-188del	NP_758859.1:n.31-189_31-188del
XM_005265959.1:c.649_650del	XP_005266016.1:p.Ser217Ter
XM_005265960.1:c.31-189_31-188del	XP_005266017.1:n.31-189_31-188del
XM_005265961.1:c.31-189_31-188del	XP_005266018.1:n.31-189_31-188del
XM_011534610.1:c.649_650del	XP_011532912.1:p.Ser217Ter
XM_011534611.1:c.649_650del	XP_011532913.1:p.Ser217Ter
XM_011534612.1:c.418-189_418-188del	XP_011532914.1:n.418-189_418-188del
XM_011534614.1:c.649_650del	XP_011532916.1:p.Ser217Ter
XM_011534615.1:c.649_650del	XP_011532917.1:p.Ser217Ter
XM_011534616.1:c.649_650del	XP_011532918.1:p.Ser217Ter
NM_001365684.1:c.31-189_31-188del	NP_001352613.1:n.31-189_31-188del
XM_024446150.1:c.649_650del	XP_024301918.1:p.Ser217Ter
XM_024446151.1:c.649_650del	XP_024301919.1:p.Ser217Ter
XM_024446152.1:c.649_650del	XP_024301920.1:p.Ser217Ter
XM_024446153.1:c.649_650del	XP_024301921.1:p.Ser217Ter
XM_024446154.1:c.418-189_418-188del	XP_024301922.1:n.418-189_418-188del
XM_024446155.1:c.31-189_31-188del	XP_024301923.1:n.31-189_31-188del
XM_024446156.1:c.31-189_31-188del	XP_024301924.1:n.31-189_31-188del
XM_024446158.1:c.31-189_31-188del	XP_024301926.1:n.31-189_31-188del
XM_024446160.1:c.649_650del	XP_024301928.1:p.Ser217Ter
XM_024446161.1:c.649_650del	XP_024301929.1:p.Ser217Ter
NM_022455.5:c.649_650del MANE Select	NP_071900.2:p.Ser217Ter
NM_172349.3:c.31-189_31-188del	NP_758859.1:n.31-189_31-188del