Canonical Allele Identifier: CA3054213443
Community Standard Title: NM_022455.5(NSD1):c.5444dup (p.Tyr1815Ter)
Gene: NSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177269742dup , CM000667.2:g.177269742dup GRCh38
NC_000005.9:g.176696743dup , CM000667.1:g.176696743dup GRCh37
NC_000005.8:g.176629349dup NCBI36
NG_009821.1:g.141664dup , LRG_512:g.141664dup

Transcript Alleles

HGVS Amino-acid Change
NM_022455.5:c.5444dup MANE Select NP_071900.2:p.Tyr1815Ter
ENST00000439151.7:c.5444dup MANE Select ENSP00000395929.2:p.Tyr1815Ter
NM_001365684.1:c.4637dup NP_001352613.1:p.Tyr1546Ter
NM_022455.4:c.5444dup , LRG_512t1:c.5444dup NP_071900.2:p.Tyr1815Ter
NM_172349.2:c.4637dup NP_758859.1:p.Tyr1546Ter
NM_172349.3:c.4637dup NP_758859.1:p.Tyr1546Ter
ENST00000347982.8:c.4637dup ENSP00000343209.4:p.Tyr1546Ter
ENST00000347982.9:c.4571dup ENSP00000343209.5:p.Tyr1524Ter
ENST00000354179.8:c.4637dup ENSP00000346111.4:p.Tyr1546Ter
ENST00000354179.9:c.4571dup ENSP00000346111.5:p.Tyr1524Ter
ENST00000439151.6:c.5444dup ENSP00000395929.2:p.Tyr1815Ter
ENST00000503056.5:c.86dup ENSP00000424024.1:p.Tyr29Ter
ENST00000503056.6:c.86dup ENSP00000424024.2:p.Tyr29Ter
ENST00000508029.5:c.86dup ENSP00000425120.1:p.Tyr29Ter
ENST00000508029.6:c.86dup ENSP00000425120.2:p.Tyr29Ter
ENST00000508896.7:c.4571dup ENSP00000423372.3:p.Tyr1524Ter
ENST00000515735.1:c.86dup ENSP00000423048.1:p.Tyr29Ter
ENST00000685206.1:n.5027dup
ENST00000686993.1:c.4571dup ENSP00000510020.1:p.Tyr1524Ter
ENST00000687095.1:n.258+2024dup
ENST00000687453.1:c.5135dup ENSP00000508426.1:p.Tyr1712Ter
ENST00000688613.1:n.4841dup
ENST00000689345.1:c.4571dup ENSP00000509711.1:p.Tyr1524Ter
ENST00000689549.1:n.5591dup
ENST00000692024.1:n.2363dup
XM_005265959.1:c.5444dup XP_005266016.1:p.Tyr1815Ter
XM_005265960.1:c.4637dup XP_005266017.1:p.Tyr1546Ter
XM_005265961.1:c.4637dup XP_005266018.1:p.Tyr1546Ter
XM_005265962.3:c.938dup XP_005266019.1:p.Tyr313Ter
XM_011534610.1:c.5444dup XP_011532912.1:p.Tyr1815Ter
XM_011534611.1:c.5444dup XP_011532913.1:p.Tyr1815Ter
XM_011534612.1:c.5024dup XP_011532914.1:p.Tyr1675Ter
XM_011534613.1:c.4388dup XP_011532915.1:p.Tyr1463Ter
XM_011534617.1:c.1178dup XP_011532919.1:p.Tyr393Ter
XM_024446150.1:c.5444dup XP_024301918.1:p.Tyr1815Ter
XM_024446151.1:c.5444dup XP_024301919.1:p.Tyr1815Ter
XM_024446152.1:c.5444dup XP_024301920.1:p.Tyr1815Ter
XM_024446153.1:c.5444dup XP_024301921.1:p.Tyr1815Ter
XM_024446154.1:c.5024dup XP_024301922.1:p.Tyr1675Ter
XM_024446155.1:c.4637dup XP_024301923.1:p.Tyr1546Ter
XM_024446156.1:c.4637dup XP_024301924.1:p.Tyr1546Ter
XM_024446158.1:c.4637dup XP_024301926.1:p.Tyr1546Ter
XM_024446159.1:c.4388dup XP_024301927.1:p.Tyr1463Ter
XM_024446162.1:c.1178dup XP_024301930.1:p.Tyr393Ter
XM_024446163.1:c.938dup XP_024301931.1:p.Tyr313Ter