Canonical Allele Identifier: CA5523026
Community Standard Title: NM_032578.4(MYPN):c.3342_3343del (p.Pro1115ArgfsTer19)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199424_68199425del , CM000672.2:g.68199424_68199425del GRCh38
NC_000010.10:g.69959181_69959182del , CM000672.1:g.69959181_69959182del GRCh37
NC_000010.9:g.69629187_69629188del NCBI36
NG_032118.1:g.98308_98309del , LRG_410:g.98308_98309del

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3342_3343del MANE Select NP_115967.2:p.Pro1115ArgfsTer19
ENST00000358913.10:c.3342_3343del MANE Select ENSP00000351790.5:p.Pro1115ArgfsTer19
NM_001256267.1:c.3342_3343del NP_001243196.1:p.Pro1115ArgfsTer19
NM_001256267.2:c.3342_3343del NP_001243196.1:p.Pro1115ArgfsTer19
NM_001256268.1:c.2460_2461del NP_001243197.1:p.Pro821ArgfsTer19
NM_001256268.2:c.2460_2461del NP_001243197.1:p.Pro821ArgfsTer19
NM_032578.3:c.3342_3343del , LRG_410t1:c.3342_3343del NP_115967.2:p.Pro1115ArgfsTer19
NR_045662.3:n.2769_2770del
NR_045662.4:n.2879_2880del
NR_045663.3:n.3471_3472del
NR_045663.4:n.3416_3417del
ENST00000354393.6:c.2517_2518del ENSP00000346369.2:p.Pro840ArgfsTer19
ENST00000354393.7:c.2517_2518del ENSP00000346369.2:p.Pro840ArgfsTer19
ENST00000358913.9:c.3342_3343del ENSP00000351790.5:p.Pro1115ArgfsTer19
ENST00000540630.5:c.3342_3343del ENSP00000441668.2:p.Pro1115ArgfsTer19
ENST00000540630.6:c.3396_3397del ENSP00000441668.3:p.Pro1133ArgfsTer19
ENST00000613327.4:c.2460_2461del ENSP00000480757.1:p.Pro821ArgfsTer19
ENST00000613327.5:c.3342_3343del ENSP00000480757.2:p.Pro1115ArgfsTer19
ENST00000688812.1:c.*605_*606del ENSP00000510658.1:n.*605_*606del
ENST00000690544.1:c.*2613_*2614del ENSP00000508989.1:n.*2613_*2614del
XM_006718043.2:c.3396_3397del XP_006718106.1:p.Pro1133ArgfsTer19
XM_011540292.1:c.3372_3373del XP_011538594.1:p.Pro1125ArgfsTer19
XM_017016833.1:c.3420_3421del XP_016872322.1:p.Pro1141ArgfsTer19
XM_017016834.2:c.3342_3343del XP_016872323.1:p.Pro1115ArgfsTer19
XM_024448236.1:c.2220_2221del XP_024304004.1:p.Pro741ArgfsTer19
XR_946029.1:n.1804-150_1804-149del