Canonical Allele Identifier: CA2676692108

Gene: NSD1

Linked Data

• gnomAD v4: 5-177294097-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294101_177294103del , CM000667.2:g.177294101_177294103del	GRCh38
NC_000005.9:g.176721102_176721104del , CM000667.1:g.176721102_176721104del	GRCh37
NC_000005.8:g.176653708_176653710del	NCBI36
NG_009821.1:g.166023_166025del , LRG_512:g.166023_166025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5860_5862del	ENSP00000423372.3:p.Ala1954del
ENST00000347982.9:c.5860_5862del	ENSP00000343209.5:p.Ala1954del
ENST00000354179.9:c.5860_5862del	ENSP00000346111.5:p.Ala1954del
ENST00000503056.6:c.1375_1377del	ENSP00000424024.2:p.Ala459del
ENST00000508029.6:c.1375_1377del	ENSP00000425120.2:p.Ala459del
ENST00000685206.1:n.6316_6318del
ENST00000686385.1:n.1149_1151del
ENST00000686993.1:c.5860_5862del	ENSP00000510020.1:p.Ala1954del
ENST00000687453.1:c.6424_6426del	ENSP00000508426.1:p.Ala2142del
ENST00000688613.1:n.6130_6132del
ENST00000689345.1:c.5860_5862del	ENSP00000509711.1:p.Ala1954del
ENST00000439151.7:c.6733_6735del MANE Select	ENSP00000395929.2:p.Ala2245del
ENST00000347982.8:c.5926_5928del	ENSP00000343209.4:p.Ala1976del
ENST00000354179.8:c.5926_5928del	ENSP00000346111.4:p.Ala1976del
ENST00000439151.6:c.6733_6735del	ENSP00000395929.2:p.Ala2245del
NM_022455.4:c.6733_6735del , LRG_512t1:c.6733_6735del	NP_071900.2:p.Ala2245del
NM_172349.2:c.5926_5928del	NP_758859.1:p.Ala1976del
XM_005265959.1:c.6733_6735del	XP_005266016.1:p.Ala2245del
XM_005265960.1:c.5926_5928del	XP_005266017.1:p.Ala1976del
XM_005265961.1:c.5926_5928del	XP_005266018.1:p.Ala1976del
XM_005265962.3:c.2227_2229del	XP_005266019.1:p.Ala743del
XM_011534610.1:c.6733_6735del	XP_011532912.1:p.Ala2245del
XM_011534611.1:c.6733_6735del	XP_011532913.1:p.Ala2245del
XM_011534612.1:c.6313_6315del	XP_011532914.1:p.Ala2105del
XM_011534613.1:c.5677_5679del	XP_011532915.1:p.Ala1893del
XM_011534617.1:c.2467_2469del	XP_011532919.1:p.Ala823del
NM_001365684.1:c.5926_5928del	NP_001352613.1:p.Ala1976del
XM_024446150.1:c.6733_6735del	XP_024301918.1:p.Ala2245del
XM_024446151.1:c.6733_6735del	XP_024301919.1:p.Ala2245del
XM_024446152.1:c.6733_6735del	XP_024301920.1:p.Ala2245del
XM_024446153.1:c.6733_6735del	XP_024301921.1:p.Ala2245del
XM_024446154.1:c.6313_6315del	XP_024301922.1:p.Ala2105del
XM_024446155.1:c.5926_5928del	XP_024301923.1:p.Ala1976del
XM_024446156.1:c.5926_5928del	XP_024301924.1:p.Ala1976del
XM_024446158.1:c.5926_5928del	XP_024301926.1:p.Ala1976del
XM_024446159.1:c.5677_5679del	XP_024301927.1:p.Ala1893del
XM_024446162.1:c.2467_2469del	XP_024301930.1:p.Ala823del
XM_024446163.1:c.2227_2229del	XP_024301931.1:p.Ala743del
NM_022455.5:c.6733_6735del MANE Select	NP_071900.2:p.Ala2245del
NM_172349.3:c.5926_5928del	NP_758859.1:p.Ala1976del