Canonical Allele Identifier: CA2695238626

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641300_150641301del , CM000685.2:g.150641300_150641301del	GRCh38
NC_000023.10:g.149809773_149809774del , CM000685.1:g.149809773_149809774del	GRCh37
NC_000023.9:g.149560431_149560432del	NCBI36
NG_008199.1:g.77727_77728del , LRG_839:g.77727_77728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*93_*94del	ENSP00000509844.1:n.*93_*94del
ENST00000685439.1:c.215_216del	ENSP00000508454.1:p.Phe72TyrfsTer2
ENST00000685944.1:c.560_561del	ENSP00000509266.1:p.Phe187TyrfsTer2
ENST00000686212.1:n.162_163del
ENST00000687215.1:c.*315_*316del	ENSP00000509706.1:n.*315_*316del
ENST00000688152.1:c.*4_*5del	ENSP00000509360.1:n.*4_*5del
ENST00000688403.1:c.-185_-184del	ENSP00000508944.1:n.-185_-184del
ENST00000689314.1:c.605_606del	ENSP00000510607.1:p.Phe202TyrfsTer2
ENST00000689694.1:c.560_561del	ENSP00000508718.1:p.Phe187TyrfsTer2
ENST00000689810.1:c.*209_*210del	ENSP00000510635.1:n.*209_*210del
ENST00000690282.1:c.-185_-184del	ENSP00000509809.1:n.-185_-184del
ENST00000690351.1:c.*212_*213del	ENSP00000509728.1:n.*212_*213del
ENST00000691232.1:c.215_216del	ENSP00000509675.1:p.Phe72TyrfsTer2
ENST00000691482.1:n.1575_1576del
ENST00000691686.1:c.560_561del	ENSP00000509784.1:p.Phe187TyrfsTer2
ENST00000691851.1:c.560_561del	ENSP00000510106.1:p.Phe187TyrfsTer2
ENST00000692015.1:c.347_348del	ENSP00000510634.1:p.Phe116TyrfsTer2
ENST00000692638.1:c.*365_*366del	ENSP00000509412.1:n.*365_*366del
ENST00000692852.1:c.560_561del	ENSP00000510337.1:p.Phe187TyrfsTer2
ENST00000692915.1:c.*767_*768del	ENSP00000508547.1:n.*767_*768del
ENST00000370396.7:c.560_561del MANE Select	ENSP00000359423.3:p.Phe187TyrfsTer2
ENST00000306167.11:n.427_428del
ENST00000370396.6:c.560_561del	ENSP00000359423.2:p.Phe187TyrfsTer2
ENST00000490530.1:n.499_500del
NM_000252.2:c.560_561del , LRG_839t1:c.560_561del	NP_000243.1:p.Phe187TyrfsTer2
XM_005274687.2:c.560_561del	XP_005274744.1:p.Phe187TyrfsTer2
XM_011531170.1:c.626_627del	XP_011529472.1:p.Phe209TyrfsTer2
XM_011531171.1:c.605_606del	XP_011529473.1:p.Phe202TyrfsTer2
XM_011531172.1:c.605_606del	XP_011529474.1:p.Phe202TyrfsTer2
XM_011531173.1:c.560_561del	XP_011529475.1:p.Phe187TyrfsTer2
XM_011531173.2:c.560_561del	XP_011529475.1:p.Phe187TyrfsTer2
XM_017029547.1:c.605_606del	XP_016885036.1:p.Phe202TyrfsTer2
XM_017029548.1:c.605_606del	XP_016885037.1:p.Phe202TyrfsTer2
XM_017029549.1:c.560_561del	XP_016885038.1:p.Phe187TyrfsTer2
XM_017029550.1:c.449_450del	XP_016885039.1:p.Phe150TyrfsTer2
XM_017029551.2:c.-185_-184del	XP_016885040.1:n.-185_-184del
NM_000252.3:c.560_561del MANE Select	NP_000243.1:p.Phe187TyrfsTer2
NM_001376906.1:c.560_561del	NP_001363835.1:p.Phe187TyrfsTer2
NM_001376907.1:c.449_450del	NP_001363836.1:p.Phe150TyrfsTer2
NM_001376908.1:c.560_561del	NP_001363837.1:p.Phe187TyrfsTer2