Canonical Allele Identifier: CA2503393039

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658011del , CM000685.2:g.150658011del	GRCh38
NC_000023.10:g.149826484del , CM000685.1:g.149826484del	GRCh37
NC_000023.9:g.149577142del	NCBI36
NG_008199.1:g.94438del , LRG_839:g.94438del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*777del	ENSP00000509844.1:n.*777del
ENST00000685439.1:c.899del	ENSP00000508454.1:p.Gly300AspfsTer8
ENST00000685944.1:c.1244del	ENSP00000509266.1:p.Gly415AspfsTer8
ENST00000686212.1:n.846del
ENST00000687215.1:c.*999del	ENSP00000509706.1:n.*999del
ENST00000688152.1:c.*688del	ENSP00000509360.1:n.*688del
ENST00000688403.1:c.500del	ENSP00000508944.1:p.Gly167AspfsTer8
ENST00000689314.1:c.1289del	ENSP00000510607.1:p.Gly430AspfsTer8
ENST00000689694.1:c.1244del	ENSP00000508718.1:p.Gly415AspfsTer8
ENST00000689810.1:c.*893del	ENSP00000510635.1:n.*893del
ENST00000690282.1:c.500del	ENSP00000509809.1:p.Gly167AspfsTer8
ENST00000690351.1:c.*896del	ENSP00000509728.1:n.*896del
ENST00000691232.1:c.899del	ENSP00000509675.1:p.Gly300AspfsTer8
ENST00000691482.1:n.2259del
ENST00000691686.1:c.1244del	ENSP00000509784.1:p.Gly415AspfsTer18
ENST00000691851.1:c.1053+8110del	ENSP00000510106.1:n.1053+8110del
ENST00000692015.1:c.1031del	ENSP00000510634.1:p.Gly344AspfsTer8
ENST00000692638.1:c.*1049del	ENSP00000509412.1:n.*1049del
ENST00000692852.1:c.1055del	ENSP00000510337.1:p.Gly352AspfsTer8
ENST00000692915.1:c.*1390del	ENSP00000508547.1:n.*1390del
ENST00000370396.7:c.1244del MANE Select	ENSP00000359423.3:p.Gly415AspfsTer8
ENST00000306167.11:n.1111del
ENST00000370396.6:c.1244del	ENSP00000359423.2:p.Gly415AspfsTer8
NM_000252.2:c.1244del , LRG_839t1:c.1244del	NP_000243.1:p.Gly415AspfsTer8
XM_005274687.2:c.1244del	XP_005274744.1:p.Gly415AspfsTer8
XM_011531170.1:c.1310del	XP_011529472.1:p.Gly437AspfsTer8
XM_011531171.1:c.1289del	XP_011529473.1:p.Gly430AspfsTer8
XM_011531172.1:c.1289del	XP_011529474.1:p.Gly430AspfsTer8
XM_011531173.1:c.1244del	XP_011529475.1:p.Gly415AspfsTer8
XM_011531173.2:c.1244del	XP_011529475.1:p.Gly415AspfsTer8
XM_017029547.1:c.1289del	XP_016885036.1:p.Gly430AspfsTer8
XM_017029548.1:c.1289del	XP_016885037.1:p.Gly430AspfsTer8
XM_017029549.1:c.1244del	XP_016885038.1:p.Gly415AspfsTer8
XM_017029550.1:c.1133del	XP_016885039.1:p.Gly378AspfsTer8
XM_017029551.2:c.500del	XP_016885040.1:p.Gly167AspfsTer8
NM_000252.3:c.1244del MANE Select	NP_000243.1:p.Gly415AspfsTer8
NM_001376906.1:c.1244del	NP_001363835.1:p.Gly415AspfsTer8
NM_001376907.1:c.1133del	NP_001363836.1:p.Gly378AspfsTer8
NM_001376908.1:c.1244del	NP_001363837.1:p.Gly415AspfsTer8