Canonical Allele Identifier: CA220540
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92676
ClinVar RCV Id: RCV000293067
dbSNP Id: rs398123273

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641335_150641339del , CM000685.2:g.150641335_150641339del GRCh38
NC_000023.10:g.149809808_149809812del , CM000685.1:g.149809808_149809812del GRCh37
NC_000023.9:g.149560466_149560470del NCBI36
NG_008199.1:g.77762_77766del , LRG_839:g.77762_77766del

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*128_*132del ENSP00000509844.1:n.*128_*132del
ENST00000685439.1:c.250_254del ENSP00000508454.1:p.Pro84SerfsTer11
ENST00000685944.1:c.595_599del ENSP00000509266.1:p.Pro199SerfsTer11
ENST00000686212.1:n.197_201del
ENST00000687215.1:c.*350_*354del ENSP00000509706.1:n.*350_*354del
ENST00000688152.1:c.*39_*43del ENSP00000509360.1:n.*39_*43del
ENST00000688403.1:c.-150_-146del ENSP00000508944.1:n.-150_-146del
ENST00000689314.1:c.640_644del ENSP00000510607.1:p.Pro214SerfsTer11
ENST00000689694.1:c.595_599del ENSP00000508718.1:p.Pro199SerfsTer11
ENST00000689810.1:c.*244_*248del ENSP00000510635.1:n.*244_*248del
ENST00000690282.1:c.-150_-146del ENSP00000509809.1:n.-150_-146del
ENST00000690351.1:c.*247_*251del ENSP00000509728.1:n.*247_*251del
ENST00000691232.1:c.250_254del ENSP00000509675.1:p.Pro84SerfsTer11
ENST00000691482.1:n.1610_1614del
ENST00000691686.1:c.595_599del ENSP00000509784.1:p.Pro199SerfsTer11
ENST00000691851.1:c.595_599del ENSP00000510106.1:p.Pro199SerfsTer11
ENST00000692015.1:c.382_386del ENSP00000510634.1:p.Pro128SerfsTer11
ENST00000692638.1:c.*400_*404del ENSP00000509412.1:n.*400_*404del
ENST00000692852.1:c.595_599del ENSP00000510337.1:p.Pro199SerfsTer11
ENST00000692915.1:c.*802_*806del ENSP00000508547.1:n.*802_*806del
ENST00000370396.7:c.595_599del MANE Select ENSP00000359423.3:p.Pro199SerfsTer11
ENST00000306167.11:n.462_466del
ENST00000370396.6:c.595_599del ENSP00000359423.2:p.Pro199SerfsTer11
ENST00000490530.1:n.534_538del
NM_000252.2:c.595_599del , LRG_839t1:c.595_599del NP_000243.1:p.Pro199SerfsTer11
XM_005274687.2:c.595_599del XP_005274744.1:p.Pro199SerfsTer11
XM_011531170.1:c.661_665del XP_011529472.1:p.Pro221SerfsTer11
XM_011531171.1:c.640_644del XP_011529473.1:p.Pro214SerfsTer11
XM_011531172.1:c.640_644del XP_011529474.1:p.Pro214SerfsTer11
XM_011531173.1:c.595_599del XP_011529475.1:p.Pro199SerfsTer11
XM_011531173.2:c.595_599del XP_011529475.1:p.Pro199SerfsTer11
XM_017029547.1:c.640_644del XP_016885036.1:p.Pro214SerfsTer11
XM_017029548.1:c.640_644del XP_016885037.1:p.Pro214SerfsTer11
XM_017029549.1:c.595_599del XP_016885038.1:p.Pro199SerfsTer11
XM_017029550.1:c.484_488del XP_016885039.1:p.Pro162SerfsTer11
XM_017029551.2:c.-150_-146del XP_016885040.1:n.-150_-146del
NM_000252.3:c.595_599del MANE Select NP_000243.1:p.Pro199SerfsTer11
NM_001376906.1:c.595_599del NP_001363835.1:p.Pro199SerfsTer11
NM_001376907.1:c.484_488del NP_001363836.1:p.Pro162SerfsTer11
NM_001376908.1:c.595_599del NP_001363837.1:p.Pro199SerfsTer11