Canonical Allele Identifier: CA645602639
Gene: MTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641363_150641384del , CM000685.2:g.150641363_150641384del GRCh38
NC_000023.10:g.149809836_149809857del , CM000685.1:g.149809836_149809857del GRCh37
NC_000023.9:g.149560494_149560515del NCBI36
NG_008199.1:g.77790_77811del , LRG_839:g.77790_77811del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*156_*177del ENSP00000509844.1:n.*156_*177del
ENST00000685439.1:c.278_299del ENSP00000508454.1:p.Ala93GlufsTer?
ENST00000685944.1:c.623_644del ENSP00000509266.1:p.Ala208GlufsTer?
ENST00000686212.1:n.225_246del
ENST00000687215.1:c.*378_*399del ENSP00000509706.1:n.*378_*399del
ENST00000688152.1:c.*67_*88del ENSP00000509360.1:n.*67_*88del
ENST00000688403.1:c.-122_-101del ENSP00000508944.1:n.-122_-101del
ENST00000689314.1:c.668_689del ENSP00000510607.1:p.Ala223GlufsTer?
ENST00000689694.1:c.623_644del ENSP00000508718.1:p.Ala208GlufsTer?
ENST00000689810.1:c.*272_*293del ENSP00000510635.1:n.*272_*293del
ENST00000690282.1:c.-122_-101del ENSP00000509809.1:n.-122_-101del
ENST00000690351.1:c.*275_*296del ENSP00000509728.1:n.*275_*296del
ENST00000691232.1:c.278_299del ENSP00000509675.1:p.Ala93GlufsTer?
ENST00000691482.1:n.1638_1659del
ENST00000691686.1:c.623_644del ENSP00000509784.1:p.Ala208GlufsTer?
ENST00000691851.1:c.623_644del ENSP00000510106.1:p.Ala208GlufsTer?
ENST00000692015.1:c.410_431del ENSP00000510634.1:p.Ala137GlufsTer?
ENST00000692638.1:c.*428_*449del ENSP00000509412.1:n.*428_*449del
ENST00000692852.1:c.623_644del ENSP00000510337.1:p.Ala208GlufsTer?
ENST00000692915.1:c.*830_*851del ENSP00000508547.1:n.*830_*851del
ENST00000370396.7:c.623_644del MANE Select ENSP00000359423.3:p.Ala208GlufsTer?
ENST00000306167.11:n.490_511del
ENST00000370396.6:c.623_644del ENSP00000359423.2:p.Ala208GlufsTer?
ENST00000490530.1:n.562_583del
NM_000252.2:c.623_644del , LRG_839t1:c.623_644del NP_000243.1:p.Ala208GlufsTer?
XM_005274687.2:c.623_644del XP_005274744.1:p.Ala208GlufsTer?
XM_011531170.1:c.689_710del XP_011529472.1:p.Ala230GlufsTer?
XM_011531171.1:c.668_689del XP_011529473.1:p.Ala223GlufsTer?
XM_011531172.1:c.668_689del XP_011529474.1:p.Ala223GlufsTer?
XM_011531173.1:c.623_644del XP_011529475.1:p.Ala208GlufsTer?
XM_011531173.2:c.623_644del XP_011529475.1:p.Ala208GlufsTer?
XM_017029547.1:c.668_689del XP_016885036.1:p.Ala223GlufsTer?
XM_017029548.1:c.668_689del XP_016885037.1:p.Ala223GlufsTer?
XM_017029549.1:c.623_644del XP_016885038.1:p.Ala208GlufsTer?
XM_017029550.1:c.512_533del XP_016885039.1:p.Ala171GlufsTer?
XM_017029551.2:c.-122_-101del XP_016885040.1:n.-122_-101del
NM_000252.3:c.623_644del MANE Select NP_000243.1:p.Ala208GlufsTer?
NM_001376906.1:c.623_644del NP_001363835.1:p.Ala208GlufsTer?
NM_001376907.1:c.512_533del NP_001363836.1:p.Ala171GlufsTer?
NM_001376908.1:c.623_644del NP_001363837.1:p.Ala208GlufsTer?