Canonical Allele Identifier: CA2695238627
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641306del , CM000685.2:g.150641306del GRCh38
NC_000023.10:g.149809779del , CM000685.1:g.149809779del GRCh37
NC_000023.9:g.149560437del NCBI36
NG_008199.1:g.77733del , LRG_839:g.77733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*99del ENSP00000509844.1:n.*99del
ENST00000685439.1:c.221del ENSP00000508454.1:p.Asn74IlefsTer?
ENST00000685944.1:c.566del ENSP00000509266.1:p.Asn189IlefsTer?
ENST00000686212.1:n.168del
ENST00000687215.1:c.*321del ENSP00000509706.1:n.*321del
ENST00000688152.1:c.*10del ENSP00000509360.1:n.*10del
ENST00000688403.1:c.-179del ENSP00000508944.1:n.-179del
ENST00000689314.1:c.611del ENSP00000510607.1:p.Asn204IlefsTer?
ENST00000689694.1:c.566del ENSP00000508718.1:p.Asn189IlefsTer?
ENST00000689810.1:c.*215del ENSP00000510635.1:n.*215del
ENST00000690282.1:c.-179del ENSP00000509809.1:n.-179del
ENST00000690351.1:c.*218del ENSP00000509728.1:n.*218del
ENST00000691232.1:c.221del ENSP00000509675.1:p.Asn74IlefsTer?
ENST00000691482.1:n.1581del
ENST00000691686.1:c.566del ENSP00000509784.1:p.Asn189IlefsTer?
ENST00000691851.1:c.566del ENSP00000510106.1:p.Asn189IlefsTer?
ENST00000692015.1:c.353del ENSP00000510634.1:p.Asn118IlefsTer?
ENST00000692638.1:c.*371del ENSP00000509412.1:n.*371del
ENST00000692852.1:c.566del ENSP00000510337.1:p.Asn189IlefsTer?
ENST00000692915.1:c.*773del ENSP00000508547.1:n.*773del
ENST00000370396.7:c.566del MANE Select ENSP00000359423.3:p.Asn189IlefsTer?
ENST00000306167.11:n.433del
ENST00000370396.6:c.566del ENSP00000359423.2:p.Asn189IlefsTer?
ENST00000490530.1:n.505del
NM_000252.2:c.566del , LRG_839t1:c.566del NP_000243.1:p.Asn189IlefsTer?
XM_005274687.2:c.566del XP_005274744.1:p.Asn189IlefsTer?
XM_011531170.1:c.632del XP_011529472.1:p.Asn211IlefsTer?
XM_011531171.1:c.611del XP_011529473.1:p.Asn204IlefsTer?
XM_011531172.1:c.611del XP_011529474.1:p.Asn204IlefsTer?
XM_011531173.1:c.566del XP_011529475.1:p.Asn189IlefsTer?
XM_011531173.2:c.566del XP_011529475.1:p.Asn189IlefsTer?
XM_017029547.1:c.611del XP_016885036.1:p.Asn204IlefsTer?
XM_017029548.1:c.611del XP_016885037.1:p.Asn204IlefsTer?
XM_017029549.1:c.566del XP_016885038.1:p.Asn189IlefsTer?
XM_017029550.1:c.455del XP_016885039.1:p.Asn152IlefsTer?
XM_017029551.2:c.-179del XP_016885040.1:n.-179del
NM_000252.3:c.566del MANE Select NP_000243.1:p.Asn189IlefsTer?
NM_001376906.1:c.566del NP_001363835.1:p.Asn189IlefsTer?
NM_001376907.1:c.455del NP_001363836.1:p.Asn152IlefsTer?
NM_001376908.1:c.566del NP_001363837.1:p.Asn189IlefsTer?