Canonical Allele Identifier: CA2580101642

Gene: MTM1

Linked Data

• ClinVar Variation Id: 2032880
• ClinVar RCV Id: RCV002881504

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657883del , CM000685.2:g.150657883del	GRCh38
NC_000023.10:g.149826356del , CM000685.1:g.149826356del	GRCh37
NC_000023.9:g.149577014del	NCBI36
NG_008199.1:g.94310del , LRG_839:g.94310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*649del	ENSP00000509844.1:n.*649del
ENST00000685439.1:c.771del	ENSP00000508454.1:p.Val258CysfsTer13
ENST00000685944.1:c.1116del	ENSP00000509266.1:p.Val373CysfsTer13
ENST00000686212.1:n.718del
ENST00000687215.1:c.*871del	ENSP00000509706.1:n.*871del
ENST00000688152.1:c.*560del	ENSP00000509360.1:n.*560del
ENST00000688403.1:c.372del	ENSP00000508944.1:p.Val125CysfsTer13
ENST00000689314.1:c.1161del	ENSP00000510607.1:p.Val388CysfsTer13
ENST00000689694.1:c.1116del	ENSP00000508718.1:p.Val373CysfsTer13
ENST00000689810.1:c.*765del	ENSP00000510635.1:n.*765del
ENST00000690282.1:c.372del	ENSP00000509809.1:p.Val125CysfsTer13
ENST00000690351.1:c.*768del	ENSP00000509728.1:n.*768del
ENST00000691232.1:c.771del	ENSP00000509675.1:p.Val258CysfsTer13
ENST00000691482.1:n.2131del
ENST00000691686.1:c.1116del	ENSP00000509784.1:p.Val373CysfsTer13
ENST00000691851.1:c.1053+7982del	ENSP00000510106.1:n.1053+7982del
ENST00000692015.1:c.903del	ENSP00000510634.1:p.Val302CysfsTer13
ENST00000692638.1:c.*921del	ENSP00000509412.1:n.*921del
ENST00000692852.1:c.927del	ENSP00000510337.1:p.Val310CysfsTer13
ENST00000692915.1:c.*1262del	ENSP00000508547.1:n.*1262del
ENST00000370396.7:c.1116del MANE Select	ENSP00000359423.3:p.Val373CysfsTer13
ENST00000306167.11:n.983del
ENST00000370396.6:c.1116del	ENSP00000359423.2:p.Val373CysfsTer13
NM_000252.2:c.1116del , LRG_839t1:c.1116del	NP_000243.1:p.Val373CysfsTer13
XM_005274687.2:c.1116del	XP_005274744.1:p.Val373CysfsTer13
XM_011531170.1:c.1182del	XP_011529472.1:p.Val395CysfsTer13
XM_011531171.1:c.1161del	XP_011529473.1:p.Val388CysfsTer13
XM_011531172.1:c.1161del	XP_011529474.1:p.Val388CysfsTer13
XM_011531173.1:c.1116del	XP_011529475.1:p.Val373CysfsTer13
XM_011531173.2:c.1116del	XP_011529475.1:p.Val373CysfsTer13
XM_017029547.1:c.1161del	XP_016885036.1:p.Val388CysfsTer13
XM_017029548.1:c.1161del	XP_016885037.1:p.Val388CysfsTer13
XM_017029549.1:c.1116del	XP_016885038.1:p.Val373CysfsTer13
XM_017029550.1:c.1005del	XP_016885039.1:p.Val336CysfsTer13
XM_017029551.2:c.372del	XP_016885040.1:p.Val125CysfsTer13
NM_000252.3:c.1116del MANE Select	NP_000243.1:p.Val373CysfsTer13
NM_001376906.1:c.1116del	NP_001363835.1:p.Val373CysfsTer13
NM_001376907.1:c.1005del	NP_001363836.1:p.Val336CysfsTer13
NM_001376908.1:c.1116del	NP_001363837.1:p.Val373CysfsTer13