Canonical Allele Identifier: CA2573145235
Gene: MYPN HGNC NCBI

Linked Data

ClinVar Variation Id: 1362406
ClinVar RCV Id: RCV001932273
dbSNP Id: rs2134300034

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199485_68199486del , CM000672.2:g.68199485_68199486del GRCh38
NC_000010.10:g.69959242_69959243del , CM000672.1:g.69959242_69959243del GRCh37
NC_000010.9:g.69629248_69629249del NCBI36
NG_032118.1:g.98369_98370del , LRG_410:g.98369_98370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2578_2579del ENSP00000346369.2:p.Pro860ThrfsTer10
ENST00000540630.6:c.3457_3458del ENSP00000441668.3:p.Pro1153ThrfsTer10
ENST00000613327.5:c.3403_3404del ENSP00000480757.2:p.Pro1135ThrfsTer10
ENST00000688812.1:c.*666_*667del ENSP00000510658.1:n.*666_*667del
ENST00000690544.1:c.*2674_*2675del ENSP00000508989.1:n.*2674_*2675del
ENST00000358913.10:c.3403_3404del MANE Select ENSP00000351790.5:p.Pro1135ThrfsTer10
ENST00000354393.6:c.2578_2579del ENSP00000346369.2:p.Pro860ThrfsTer10
ENST00000358913.9:c.3403_3404del ENSP00000351790.5:p.Pro1135ThrfsTer10
ENST00000540630.5:c.3403_3404del ENSP00000441668.2:p.Pro1135ThrfsTer10
ENST00000613327.4:c.2521_2522del ENSP00000480757.1:p.Pro841ThrfsTer10
NM_001256267.1:c.3403_3404del NP_001243196.1:p.Pro1135ThrfsTer10
NM_001256268.1:c.2521_2522del NP_001243197.1:p.Pro841ThrfsTer10
NM_032578.3:c.3403_3404del , LRG_410t1:c.3403_3404del NP_115967.2:p.Pro1135ThrfsTer10
NR_045662.3:n.2830_2831del
NR_045663.3:n.3532_3533del
XM_006718043.2:c.3457_3458del XP_006718106.1:p.Pro1153ThrfsTer10
XM_011540292.1:c.3433_3434del XP_011538594.1:p.Pro1145ThrfsTer10
XR_946029.1:n.1804-210_1804-209del
XM_017016833.1:c.3481_3482del XP_016872322.1:p.Pro1161ThrfsTer10
XM_017016834.2:c.3403_3404del XP_016872323.1:p.Pro1135ThrfsTer10
XM_024448236.1:c.2281_2282del XP_024304004.1:p.Pro761ThrfsTer10
NR_045662.4:n.2940_2941del
NR_045663.4:n.3477_3478del
NM_001256267.2:c.3403_3404del NP_001243196.1:p.Pro1135ThrfsTer10
NM_001256268.2:c.2521_2522del NP_001243197.1:p.Pro841ThrfsTer10
NM_032578.4:c.3403_3404del MANE Select NP_115967.2:p.Pro1135ThrfsTer10