Canonical Allele Identifier: CA2568374624

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657916_150657917insACTTGAATGGCTC , CM000685.2:g.150657916_150657917insACTTGAATGGCTC	GRCh38
NC_000023.10:g.149826389_149826390insACTTGAATGGCTC , CM000685.1:g.149826389_149826390insACTTGAATGGCTC	GRCh37
NC_000023.9:g.149577047_149577048insACTTGAATGGCTC	NCBI36
NG_008199.1:g.94343_94344insACTTGAATGGCTC , LRG_839:g.94343_94344insACTTGAATGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*682_*683insACTTGAATGGCTC	ENSP00000509844.1:n.*682_*683insACTTGAATGGCTC
ENST00000685439.1:c.804_805insACTTGAATGGCTC	ENSP00000508454.1:p.Gln269ThrfsTer2
ENST00000685944.1:c.1149_1150insACTTGAATGGCTC	ENSP00000509266.1:p.Gln384ThrfsTer2
ENST00000686212.1:n.751_752insACTTGAATGGCTC
ENST00000687215.1:c.*904_*905insACTTGAATGGCTC	ENSP00000509706.1:n.*904_*905insACTTGAATGGCTC
ENST00000688152.1:c.*593_*594insACTTGAATGGCTC	ENSP00000509360.1:n.*593_*594insACTTGAATGGCTC
ENST00000688403.1:c.405_406insACTTGAATGGCTC	ENSP00000508944.1:p.Gln136ThrfsTer2
ENST00000689314.1:c.1194_1195insACTTGAATGGCTC	ENSP00000510607.1:p.Gln399ThrfsTer2
ENST00000689694.1:c.1149_1150insACTTGAATGGCTC	ENSP00000508718.1:p.Gln384ThrfsTer2
ENST00000689810.1:c.*798_*799insACTTGAATGGCTC	ENSP00000510635.1:n.*798_*799insACTTGAATGGCTC
ENST00000690282.1:c.405_406insACTTGAATGGCTC	ENSP00000509809.1:p.Gln136ThrfsTer2
ENST00000690351.1:c.*801_*802insACTTGAATGGCTC	ENSP00000509728.1:n.*801_*802insACTTGAATGGCTC
ENST00000691232.1:c.804_805insACTTGAATGGCTC	ENSP00000509675.1:p.Gln269ThrfsTer2
ENST00000691482.1:n.2164_2165insACTTGAATGGCTC
ENST00000691686.1:c.1149_1150insACTTGAATGGCTC	ENSP00000509784.1:p.Gln384ThrfsTer2
ENST00000691851.1:c.1053+8015_1053+8016insACTTGAATGGCTC	ENSP00000510106.1:n.1053+8015_1053+8016insACTTGAATGGCTC
ENST00000692015.1:c.936_937insACTTGAATGGCTC	ENSP00000510634.1:p.Gln313ThrfsTer2
ENST00000692638.1:c.*954_*955insACTTGAATGGCTC	ENSP00000509412.1:n.*954_*955insACTTGAATGGCTC
ENST00000692852.1:c.960_961insACTTGAATGGCTC	ENSP00000510337.1:p.Gln321ThrfsTer2
ENST00000692915.1:c.*1295_*1296insACTTGAATGGCTC	ENSP00000508547.1:n.*1295_*1296insACTTGAATGGCTC
ENST00000370396.7:c.1149_1150insACTTGAATGGCTC MANE Select	ENSP00000359423.3:p.Gln384ThrfsTer2
ENST00000306167.11:n.1016_1017insACTTGAATGGCTC
ENST00000370396.6:c.1149_1150insACTTGAATGGCTC	ENSP00000359423.2:p.Gln384ThrfsTer2
NM_000252.2:c.1149_1150insACTTGAATGGCTC , LRG_839t1:c.1149_1150insACTTGAATGGCTC	NP_000243.1:p.Gln384ThrfsTer2
XM_005274687.2:c.1149_1150insACTTGAATGGCTC	XP_005274744.1:p.Gln384ThrfsTer2
XM_011531170.1:c.1215_1216insACTTGAATGGCTC	XP_011529472.1:p.Gln406ThrfsTer2
XM_011531171.1:c.1194_1195insACTTGAATGGCTC	XP_011529473.1:p.Gln399ThrfsTer2
XM_011531172.1:c.1194_1195insACTTGAATGGCTC	XP_011529474.1:p.Gln399ThrfsTer2
XM_011531173.1:c.1149_1150insACTTGAATGGCTC	XP_011529475.1:p.Gln384ThrfsTer2
XM_011531173.2:c.1149_1150insACTTGAATGGCTC	XP_011529475.1:p.Gln384ThrfsTer2
XM_017029547.1:c.1194_1195insACTTGAATGGCTC	XP_016885036.1:p.Gln399ThrfsTer2
XM_017029548.1:c.1194_1195insACTTGAATGGCTC	XP_016885037.1:p.Gln399ThrfsTer2
XM_017029549.1:c.1149_1150insACTTGAATGGCTC	XP_016885038.1:p.Gln384ThrfsTer2
XM_017029550.1:c.1038_1039insACTTGAATGGCTC	XP_016885039.1:p.Gln347ThrfsTer2
XM_017029551.2:c.405_406insACTTGAATGGCTC	XP_016885040.1:p.Gln136ThrfsTer2
NM_000252.3:c.1149_1150insACTTGAATGGCTC MANE Select	NP_000243.1:p.Gln384ThrfsTer2
NM_001376906.1:c.1149_1150insACTTGAATGGCTC	NP_001363835.1:p.Gln384ThrfsTer2
NM_001376907.1:c.1038_1039insACTTGAATGGCTC	NP_001363836.1:p.Gln347ThrfsTer2
NM_001376908.1:c.1149_1150insACTTGAATGGCTC	NP_001363837.1:p.Gln384ThrfsTer2