Canonical Allele Identifier: CA915940208

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657914_150657915insT , CM000685.2:g.150657914_150657915insT	GRCh38
NC_000023.10:g.149826387_149826388insT , CM000685.1:g.149826387_149826388insT	GRCh37
NC_000023.9:g.149577045_149577046insT	NCBI36
NG_008199.1:g.94341_94342insT , LRG_839:g.94341_94342insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*680_*681insT	ENSP00000509844.1:n.*680_*681insT
ENST00000685439.1:c.802_803insT	ENSP00000508454.1:p.Ala268ValfsTer13
ENST00000685944.1:c.1147_1148insT	ENSP00000509266.1:p.Ala383ValfsTer13
ENST00000686212.1:n.749_750insT
ENST00000687215.1:c.*902_*903insT	ENSP00000509706.1:n.*902_*903insT
ENST00000688152.1:c.*591_*592insT	ENSP00000509360.1:n.*591_*592insT
ENST00000688403.1:c.403_404insT	ENSP00000508944.1:p.Ala135ValfsTer13
ENST00000689314.1:c.1192_1193insT	ENSP00000510607.1:p.Ala398ValfsTer13
ENST00000689694.1:c.1147_1148insT	ENSP00000508718.1:p.Ala383ValfsTer13
ENST00000689810.1:c.*796_*797insT	ENSP00000510635.1:n.*796_*797insT
ENST00000690282.1:c.403_404insT	ENSP00000509809.1:p.Ala135ValfsTer13
ENST00000690351.1:c.*799_*800insT	ENSP00000509728.1:n.*799_*800insT
ENST00000691232.1:c.802_803insT	ENSP00000509675.1:p.Ala268ValfsTer13
ENST00000691482.1:n.2162_2163insT
ENST00000691686.1:c.1147_1148insT	ENSP00000509784.1:p.Ala383ValfsTer13
ENST00000691851.1:c.1053+8013_1053+8014insT	ENSP00000510106.1:n.1053+8013_1053+8014insT
ENST00000692015.1:c.934_935insT	ENSP00000510634.1:p.Ala312ValfsTer13
ENST00000692638.1:c.*952_*953insT	ENSP00000509412.1:n.*952_*953insT
ENST00000692852.1:c.958_959insT	ENSP00000510337.1:p.Ala320ValfsTer13
ENST00000692915.1:c.*1293_*1294insT	ENSP00000508547.1:n.*1293_*1294insT
ENST00000370396.7:c.1147_1148insT MANE Select	ENSP00000359423.3:p.Ala383ValfsTer13
ENST00000306167.11:n.1014_1015insT
ENST00000370396.6:c.1147_1148insT	ENSP00000359423.2:p.Ala383ValfsTer13
NM_000252.2:c.1147_1148insT , LRG_839t1:c.1147_1148insT	NP_000243.1:p.Ala383ValfsTer13
XM_005274687.2:c.1147_1148insT	XP_005274744.1:p.Ala383ValfsTer13
XM_011531170.1:c.1213_1214insT	XP_011529472.1:p.Ala405ValfsTer13
XM_011531171.1:c.1192_1193insT	XP_011529473.1:p.Ala398ValfsTer13
XM_011531172.1:c.1192_1193insT	XP_011529474.1:p.Ala398ValfsTer13
XM_011531173.1:c.1147_1148insT	XP_011529475.1:p.Ala383ValfsTer13
XM_011531173.2:c.1147_1148insT	XP_011529475.1:p.Ala383ValfsTer13
XM_017029547.1:c.1192_1193insT	XP_016885036.1:p.Ala398ValfsTer13
XM_017029548.1:c.1192_1193insT	XP_016885037.1:p.Ala398ValfsTer13
XM_017029549.1:c.1147_1148insT	XP_016885038.1:p.Ala383ValfsTer13
XM_017029550.1:c.1036_1037insT	XP_016885039.1:p.Ala346ValfsTer13
XM_017029551.2:c.403_404insT	XP_016885040.1:p.Ala135ValfsTer13
NM_000252.3:c.1147_1148insT MANE Select	NP_000243.1:p.Ala383ValfsTer13
NM_001376906.1:c.1147_1148insT	NP_001363835.1:p.Ala383ValfsTer13
NM_001376907.1:c.1036_1037insT	NP_001363836.1:p.Ala346ValfsTer13
NM_001376908.1:c.1147_1148insT	NP_001363837.1:p.Ala383ValfsTer13