Canonical Allele Identifier: CA2739239175
Gene: MTM1 HGNC NCBI

Linked Data

dbSNP Id: rs2148511711

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150660349_150660350del , CM000685.2:g.150660349_150660350del GRCh38
NC_000023.10:g.149828822_149828823del , CM000685.1:g.149828822_149828823del GRCh37
NC_000023.9:g.149579480_149579481del NCBI36
NG_008199.1:g.96776_96777del , LRG_839:g.96776_96777del

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*887-22_*887-21del ENSP00000509844.1:n.*887-22_*887-21del
ENST00000685439.1:c.1009-22_1009-21del ENSP00000508454.1:n.1009-22_1009-21del
ENST00000685944.1:c.1354-22_1354-21del ENSP00000509266.1:n.1354-22_1354-21del
ENST00000686212.1:n.956-22_956-21del
ENST00000687215.1:c.*1109-22_*1109-21del ENSP00000509706.1:n.*1109-22_*1109-21del
ENST00000688152.1:c.*798-22_*798-21del ENSP00000509360.1:n.*798-22_*798-21del
ENST00000688403.1:c.610-22_610-21del ENSP00000508944.1:n.610-22_610-21del
ENST00000689314.1:c.1399-22_1399-21del ENSP00000510607.1:n.1399-22_1399-21del
ENST00000689694.1:c.1354-22_1354-21del ENSP00000508718.1:n.1354-22_1354-21del
ENST00000689810.1:c.*1003-22_*1003-21del ENSP00000510635.1:n.*1003-22_*1003-21del
ENST00000690282.1:c.610-22_610-21del ENSP00000509809.1:n.610-22_610-21del
ENST00000690351.1:c.*1006-22_*1006-21del ENSP00000509728.1:n.*1006-22_*1006-21del
ENST00000691232.1:c.1009-22_1009-21del ENSP00000509675.1:n.1009-22_1009-21del
ENST00000691482.1:n.2369-22_2369-21del
ENST00000691686.1:c.1261-22_1261-21del ENSP00000509784.1:n.1261-22_1261-21del
ENST00000691851.1:c.1053+10448_1053+10449del ENSP00000510106.1:n.1053+10448_1053+10449...
ENST00000692015.1:c.1141-22_1141-21del ENSP00000510634.1:n.1141-22_1141-21del
ENST00000692638.1:c.*1152-22_*1152-21del ENSP00000509412.1:n.*1152-22_*1152-21del
ENST00000692852.1:c.1165-22_1165-21del ENSP00000510337.1:n.1165-22_1165-21del
ENST00000692915.1:c.*1500-22_*1500-21del ENSP00000508547.1:n.*1500-22_*1500-21del
ENST00000370396.7:c.1354-22_1354-21del MANE Select ENSP00000359423.3:n.1354-22_1354-21del
ENST00000306167.11:n.1221-22_1221-21del
ENST00000370396.6:c.1354-22_1354-21del ENSP00000359423.2:n.1354-22_1354-21del
NM_000252.2:c.1354-22_1354-21del , LRG_839t1:c.1354-22_1354-21del NP_000243.1:n.1354-22_1354-21del
XM_005274687.2:c.1354-22_1354-21del XP_005274744.1:n.1354-22_1354-21del
XM_011531170.1:c.1420-22_1420-21del XP_011529472.1:n.1420-22_1420-21del
XM_011531171.1:c.1399-22_1399-21del XP_011529473.1:n.1399-22_1399-21del
XM_011531172.1:c.1399-22_1399-21del XP_011529474.1:n.1399-22_1399-21del
XM_011531173.1:c.1354-22_1354-21del XP_011529475.1:n.1354-22_1354-21del
XM_011531173.2:c.1354-22_1354-21del XP_011529475.1:n.1354-22_1354-21del
XM_017029547.1:c.1399-22_1399-21del XP_016885036.1:n.1399-22_1399-21del
XM_017029548.1:c.1399-22_1399-21del XP_016885037.1:n.1399-22_1399-21del
XM_017029549.1:c.1354-22_1354-21del XP_016885038.1:n.1354-22_1354-21del
XM_017029550.1:c.1243-22_1243-21del XP_016885039.1:n.1243-22_1243-21del
XM_017029551.2:c.610-22_610-21del XP_016885040.1:n.610-22_610-21del
NM_000252.3:c.1354-22_1354-21del MANE Select NP_000243.1:n.1354-22_1354-21del
NM_001376906.1:c.1354-22_1354-21del NP_001363835.1:n.1354-22_1354-21del
NM_001376907.1:c.1243-22_1243-21del NP_001363836.1:n.1243-22_1243-21del
NM_001376908.1:c.1354-22_1354-21del NP_001363837.1:n.1354-22_1354-21del