Canonical Allele Identifier: CA808081981
Gene: NSD1 HGNC NCBI

Linked Data

dbSNP Id: rs1282020655

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177282828_177282829del , CM000667.2:g.177282828_177282829del GRCh38
NC_000005.9:g.176709829_176709830del , CM000667.1:g.176709829_176709830del GRCh37
NC_000005.8:g.176642435_176642436del NCBI36
NG_009821.1:g.154750_154751del , LRG_512:g.154750_154751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.5136+247_5136+248del ENSP00000423372.3:n.5136+247_5136+248del
ENST00000347982.9:c.5136+247_5136+248del ENSP00000343209.5:n.5136+247_5136+248del
ENST00000354179.9:c.5136+247_5136+248del ENSP00000346111.5:n.5136+247_5136+248del
ENST00000503056.6:c.651+247_651+248del ENSP00000424024.2:n.651+247_651+248del
ENST00000508029.6:c.651+247_651+248del ENSP00000425120.2:n.651+247_651+248del
ENST00000685206.1:n.5592+247_5592+248del
ENST00000686993.1:c.5136+247_5136+248del ENSP00000510020.1:n.5136+247_5136+248del
ENST00000687453.1:c.5700+247_5700+248del ENSP00000508426.1:n.5700+247_5700+248del
ENST00000688613.1:n.5406+247_5406+248del
ENST00000689345.1:c.5136+247_5136+248del ENSP00000509711.1:n.5136+247_5136+248del
ENST00000689549.1:n.6156+247_6156+248del
ENST00000692024.1:n.4558+247_4558+248del
ENST00000439151.7:c.6009+247_6009+248del MANE Select ENSP00000395929.2:n.6009+247_6009+248del
ENST00000347982.8:c.5202+247_5202+248del ENSP00000343209.4:n.5202+247_5202+248del
ENST00000354179.8:c.5202+247_5202+248del ENSP00000346111.4:n.5202+247_5202+248del
ENST00000439151.6:c.6009+247_6009+248del ENSP00000395929.2:n.6009+247_6009+248del
NM_022455.4:c.6009+247_6009+248del , LRG_512t1:c.6009+247_6009+248del NP_071900.2:n.6009+247_6009+248del
NM_172349.2:c.5202+247_5202+248del NP_758859.1:n.5202+247_5202+248del
XM_005265959.1:c.6009+247_6009+248del XP_005266016.1:n.6009+247_6009+248del
XM_005265960.1:c.5202+247_5202+248del XP_005266017.1:n.5202+247_5202+248del
XM_005265961.1:c.5202+247_5202+248del XP_005266018.1:n.5202+247_5202+248del
XM_005265962.3:c.1503+247_1503+248del XP_005266019.1:n.1503+247_1503+248del
XM_011534610.1:c.6009+247_6009+248del XP_011532912.1:n.6009+247_6009+248del
XM_011534611.1:c.6009+247_6009+248del XP_011532913.1:n.6009+247_6009+248del
XM_011534612.1:c.5589+247_5589+248del XP_011532914.1:n.5589+247_5589+248del
XM_011534613.1:c.4953+247_4953+248del XP_011532915.1:n.4953+247_4953+248del
XM_011534617.1:c.1743+247_1743+248del XP_011532919.1:n.1743+247_1743+248del
NM_001365684.1:c.5202+247_5202+248del NP_001352613.1:n.5202+247_5202+248del
XM_024446150.1:c.6009+247_6009+248del XP_024301918.1:n.6009+247_6009+248del
XM_024446151.1:c.6009+247_6009+248del XP_024301919.1:n.6009+247_6009+248del
XM_024446152.1:c.6009+247_6009+248del XP_024301920.1:n.6009+247_6009+248del
XM_024446153.1:c.6009+247_6009+248del XP_024301921.1:n.6009+247_6009+248del
XM_024446154.1:c.5589+247_5589+248del XP_024301922.1:n.5589+247_5589+248del
XM_024446155.1:c.5202+247_5202+248del XP_024301923.1:n.5202+247_5202+248del
XM_024446156.1:c.5202+247_5202+248del XP_024301924.1:n.5202+247_5202+248del
XM_024446158.1:c.5202+247_5202+248del XP_024301926.1:n.5202+247_5202+248del
XM_024446159.1:c.4953+247_4953+248del XP_024301927.1:n.4953+247_4953+248del
XM_024446162.1:c.1743+247_1743+248del XP_024301930.1:n.1743+247_1743+248del
XM_024446163.1:c.1503+247_1503+248del XP_024301931.1:n.1503+247_1503+248del
NM_022455.5:c.6009+247_6009+248del MANE Select NP_071900.2:n.6009+247_6009+248del
NM_172349.3:c.5202+247_5202+248del NP_758859.1:n.5202+247_5202+248del