Canonical Allele Identifier: CA2695205722

Gene: NSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177282472_177282479del , CM000667.2:g.177282472_177282479del	GRCh38
NC_000005.9:g.176709473_176709480del , CM000667.1:g.176709473_176709480del	GRCh37
NC_000005.8:g.176642079_176642086del	NCBI36
NG_009821.1:g.154394_154401del , LRG_512:g.154394_154401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5027_5034del	ENSP00000423372.3:p.Phe1676Ter
ENST00000347982.9:c.5027_5034del	ENSP00000343209.5:p.Phe1676Ter
ENST00000354179.9:c.5027_5034del	ENSP00000346111.5:p.Phe1676Ter
ENST00000503056.6:c.542_549del	ENSP00000424024.2:p.Phe181Ter
ENST00000508029.6:c.542_549del	ENSP00000425120.2:p.Phe181Ter
ENST00000685206.1:n.5483_5490del
ENST00000686993.1:c.5027_5034del	ENSP00000510020.1:p.Phe1676Ter
ENST00000687453.1:c.5591_5598del	ENSP00000508426.1:p.Phe1864Ter
ENST00000688613.1:n.5297_5304del
ENST00000689345.1:c.5027_5034del	ENSP00000509711.1:p.Phe1676Ter
ENST00000689549.1:n.6047_6054del
ENST00000692024.1:n.4449_4456del
ENST00000439151.7:c.5900_5907del MANE Select	ENSP00000395929.2:p.Phe1967Ter
ENST00000347982.8:c.5093_5100del	ENSP00000343209.4:p.Phe1698Ter
ENST00000354179.8:c.5093_5100del	ENSP00000346111.4:p.Phe1698Ter
ENST00000439151.6:c.5900_5907del	ENSP00000395929.2:p.Phe1967Ter
NM_022455.4:c.5900_5907del , LRG_512t1:c.5900_5907del	NP_071900.2:p.Phe1967Ter
NM_172349.2:c.5093_5100del	NP_758859.1:p.Phe1698Ter
XM_005265959.1:c.5900_5907del	XP_005266016.1:p.Phe1967Ter
XM_005265960.1:c.5093_5100del	XP_005266017.1:p.Phe1698Ter
XM_005265961.1:c.5093_5100del	XP_005266018.1:p.Phe1698Ter
XM_005265962.3:c.1394_1401del	XP_005266019.1:p.Phe465Ter
XM_011534610.1:c.5900_5907del	XP_011532912.1:p.Phe1967Ter
XM_011534611.1:c.5900_5907del	XP_011532913.1:p.Phe1967Ter
XM_011534612.1:c.5480_5487del	XP_011532914.1:p.Phe1827Ter
XM_011534613.1:c.4844_4851del	XP_011532915.1:p.Phe1615Ter
XM_011534617.1:c.1634_1641del	XP_011532919.1:p.Phe545Ter
NM_001365684.1:c.5093_5100del	NP_001352613.1:p.Phe1698Ter
XM_024446150.1:c.5900_5907del	XP_024301918.1:p.Phe1967Ter
XM_024446151.1:c.5900_5907del	XP_024301919.1:p.Phe1967Ter
XM_024446152.1:c.5900_5907del	XP_024301920.1:p.Phe1967Ter
XM_024446153.1:c.5900_5907del	XP_024301921.1:p.Phe1967Ter
XM_024446154.1:c.5480_5487del	XP_024301922.1:p.Phe1827Ter
XM_024446155.1:c.5093_5100del	XP_024301923.1:p.Phe1698Ter
XM_024446156.1:c.5093_5100del	XP_024301924.1:p.Phe1698Ter
XM_024446158.1:c.5093_5100del	XP_024301926.1:p.Phe1698Ter
XM_024446159.1:c.4844_4851del	XP_024301927.1:p.Phe1615Ter
XM_024446162.1:c.1634_1641del	XP_024301930.1:p.Phe545Ter
XM_024446163.1:c.1394_1401del	XP_024301931.1:p.Phe465Ter
NM_022455.5:c.5900_5907del MANE Select	NP_071900.2:p.Phe1967Ter
NM_172349.3:c.5093_5100del	NP_758859.1:p.Phe1698Ter