Canonical Allele Identifier: CA2513606879
Community Standard Title: NM_032578.4(MYPN):c.3438_3439del (p.Ile1147ArgfsTer11)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199520_68199521del , CM000672.2:g.68199520_68199521del GRCh38
NC_000010.10:g.69959277_69959278del , CM000672.1:g.69959277_69959278del GRCh37
NC_000010.9:g.69629283_69629284del NCBI36
NG_032118.1:g.98404_98405del , LRG_410:g.98404_98405del

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3438_3439del MANE Select NP_115967.2:p.Ile1147ArgfsTer11
ENST00000358913.10:c.3438_3439del MANE Select ENSP00000351790.5:p.Ile1147ArgfsTer11
NM_001256267.1:c.3438_3439del NP_001243196.1:p.Ile1147ArgfsTer11
NM_001256267.2:c.3438_3439del NP_001243196.1:p.Ile1147ArgfsTer11
NM_001256268.1:c.2556_2557del NP_001243197.1:p.Ile853ArgfsTer11
NM_001256268.2:c.2556_2557del NP_001243197.1:p.Ile853ArgfsTer11
NM_032578.3:c.3438_3439del , LRG_410t1:c.3438_3439del NP_115967.2:p.Ile1147ArgfsTer11
NR_045662.3:n.2865_2866del
NR_045662.4:n.2975_2976del
NR_045663.3:n.3567_3568del
NR_045663.4:n.3512_3513del
ENST00000354393.6:c.2613_2614del ENSP00000346369.2:p.Ile872ArgfsTer11
ENST00000354393.7:c.2613_2614del ENSP00000346369.2:p.Ile872ArgfsTer11
ENST00000358913.9:c.3438_3439del ENSP00000351790.5:p.Ile1147ArgfsTer11
ENST00000540630.5:c.3438_3439del ENSP00000441668.2:p.Ile1147ArgfsTer11
ENST00000540630.6:c.3492_3493del ENSP00000441668.3:p.Ile1165ArgfsTer11
ENST00000613327.4:c.2556_2557del ENSP00000480757.1:p.Ile853ArgfsTer11
ENST00000613327.5:c.3438_3439del ENSP00000480757.2:p.Ile1147ArgfsTer11
ENST00000688812.1:c.*701_*702del ENSP00000510658.1:n.*701_*702del
ENST00000690544.1:c.*2709_*2710del ENSP00000508989.1:n.*2709_*2710del
XM_006718043.2:c.3492_3493del XP_006718106.1:p.Ile1165ArgfsTer11
XM_011540292.1:c.3468_3469del XP_011538594.1:p.Ile1157ArgfsTer11
XM_017016833.1:c.3516_3517del XP_016872322.1:p.Ile1173ArgfsTer11
XM_017016834.2:c.3438_3439del XP_016872323.1:p.Ile1147ArgfsTer11
XM_024448236.1:c.2316_2317del XP_024304004.1:p.Ile773ArgfsTer11
XR_946029.1:n.1804-246_1804-245del