Canonical Allele Identifier: CA2694929311
Gene: MTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150598774_150598777del , CM000685.2:g.150598774_150598777del GRCh38
NC_000023.10:g.149767238_149767241del , CM000685.1:g.149767238_149767241del GRCh37
NC_000023.9:g.149517896_149517899del NCBI36
NG_008199.1:g.35192_35195del , LRG_839:g.35192_35195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.136+2204_136+2207del ENSP00000509844.1:n.136+2204_136+2207del
ENST00000685439.1:c.-3-20264_-3-20261del ENSP00000508454.1:n.-3-20264_-3-20261del
ENST00000685944.1:c.231+88_231+91del ENSP00000509266.1:n.231+88_231+91del
ENST00000687215.1:c.-55+88_-55+91del ENSP00000509706.1:n.-55+88_-55+91del
ENST00000687365.1:n.286+88_286+91del
ENST00000688152.1:c.231+88_231+91del ENSP00000509360.1:n.231+88_231+91del
ENST00000688403.1:c.-301+29912_-301+29915del ENSP00000508944.1:n.-301+29912_-301+29915del
ENST00000689314.1:c.231+88_231+91del ENSP00000510607.1:n.231+88_231+91del
ENST00000689694.1:c.231+88_231+91del ENSP00000508718.1:n.231+88_231+91del
ENST00000689810.1:c.231+88_231+91del ENSP00000510635.1:n.231+88_231+91del
ENST00000690282.1:c.-301+30056_-301+30059del ENSP00000509809.1:n.-301+30056_-301+30059del
ENST00000690351.1:c.136+2204_136+2207del ENSP00000509728.1:n.136+2204_136+2207del
ENST00000691232.1:c.-3-20264_-3-20261del ENSP00000509675.1:n.-3-20264_-3-20261del
ENST00000691686.1:c.231+88_231+91del ENSP00000509784.1:n.231+88_231+91del
ENST00000691851.1:c.231+88_231+91del ENSP00000510106.1:n.231+88_231+91del
ENST00000692015.1:c.231+88_231+91del ENSP00000510634.1:n.231+88_231+91del
ENST00000692638.1:c.136+2204_136+2207del ENSP00000509412.1:n.136+2204_136+2207del
ENST00000692852.1:c.231+88_231+91del ENSP00000510337.1:n.231+88_231+91del
ENST00000692915.1:c.231+88_231+91del ENSP00000508547.1:n.231+88_231+91del
ENST00000693422.1:n.380_383del
ENST00000370396.7:c.231+88_231+91del MANE Select ENSP00000359423.3:n.231+88_231+91del
ENST00000306167.11:n.259+99_259+102del
ENST00000370396.6:c.231+88_231+91del ENSP00000359423.2:n.231+88_231+91del
ENST00000424519.1:c.231+88_231+91del ENSP00000400699.1:n.231+88_231+91del
ENST00000490530.1:n.170+2204_170+2207del
NM_000252.2:c.231+88_231+91del , LRG_839t1:c.231+88_231+91del NP_000243.1:n.231+88_231+91del
XM_005274687.2:c.231+88_231+91del XP_005274744.1:n.231+88_231+91del
XM_011531170.1:c.252+88_252+91del XP_011529472.1:n.252+88_252+91del
XM_011531171.1:c.231+88_231+91del XP_011529473.1:n.231+88_231+91del
XM_011531172.1:c.231+88_231+91del XP_011529474.1:n.231+88_231+91del
XM_011531173.1:c.231+88_231+91del XP_011529475.1:n.231+88_231+91del
XM_011531173.2:c.231+88_231+91del XP_011529475.1:n.231+88_231+91del
XM_017029547.1:c.231+88_231+91del XP_016885036.1:n.231+88_231+91del
XM_017029548.1:c.231+88_231+91del XP_016885037.1:n.231+88_231+91del
XM_017029549.1:c.231+88_231+91del XP_016885038.1:n.231+88_231+91del
XM_017029550.1:c.231+88_231+91del XP_016885039.1:n.231+88_231+91del
NM_000252.3:c.231+88_231+91del MANE Select NP_000243.1:n.231+88_231+91del
NM_001376906.1:c.231+88_231+91del NP_001363835.1:n.231+88_231+91del
NM_001376907.1:c.231+88_231+91del NP_001363836.1:n.231+88_231+91del
NM_001376908.1:c.231+88_231+91del NP_001363837.1:n.231+88_231+91del