Canonical Allele Identifier: CA271905

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158985
• ClinVar RCV Id: RCV000146464
• dbSNP Id: rs587783839
• MyVariant Identifiers: chrX:g.149809804_149809807del (hg19) ; chrX:g.150641331_150641334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641331_150641334del , CM000685.2:g.150641331_150641334del	GRCh38
NC_000023.10:g.149809804_149809807del , CM000685.1:g.149809804_149809807del	GRCh37
NC_000023.9:g.149560462_149560465del	NCBI36
NG_008199.1:g.77758_77761del , LRG_839:g.77758_77761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*124_*127del	ENSP00000509844.1:n.*124_*127del
ENST00000685439.1:c.246_249del	ENSP00000508454.1:p.Tyr83LeufsTer?
ENST00000685944.1:c.591_594del	ENSP00000509266.1:p.Tyr198LeufsTer?
ENST00000686212.1:n.193_196del
ENST00000687215.1:c.*346_*349del	ENSP00000509706.1:n.*346_*349del
ENST00000688152.1:c.*35_*38del	ENSP00000509360.1:n.*35_*38del
ENST00000688403.1:c.-154_-151del	ENSP00000508944.1:n.-154_-151del
ENST00000689314.1:c.636_639del	ENSP00000510607.1:p.Tyr213LeufsTer?
ENST00000689694.1:c.591_594del	ENSP00000508718.1:p.Tyr198LeufsTer?
ENST00000689810.1:c.*240_*243del	ENSP00000510635.1:n.*240_*243del
ENST00000690282.1:c.-154_-151del	ENSP00000509809.1:n.-154_-151del
ENST00000690351.1:c.*243_*246del	ENSP00000509728.1:n.*243_*246del
ENST00000691232.1:c.246_249del	ENSP00000509675.1:p.Tyr83LeufsTer?
ENST00000691482.1:n.1606_1609del
ENST00000691686.1:c.591_594del	ENSP00000509784.1:p.Tyr198LeufsTer?
ENST00000691851.1:c.591_594del	ENSP00000510106.1:p.Tyr198LeufsTer?
ENST00000692015.1:c.378_381del	ENSP00000510634.1:p.Tyr127LeufsTer?
ENST00000692638.1:c.*396_*399del	ENSP00000509412.1:n.*396_*399del
ENST00000692852.1:c.591_594del	ENSP00000510337.1:p.Tyr198LeufsTer?
ENST00000692915.1:c.*798_*801del	ENSP00000508547.1:n.*798_*801del
ENST00000370396.7:c.591_594del MANE Select	ENSP00000359423.3:p.Tyr198LeufsTer?
ENST00000306167.11:n.458_461del
ENST00000370396.6:c.591_594del	ENSP00000359423.2:p.Tyr198LeufsTer?
ENST00000490530.1:n.530_533del
NM_000252.2:c.591_594del , LRG_839t1:c.591_594del	NP_000243.1:p.Tyr198LeufsTer?
XM_005274687.2:c.591_594del	XP_005274744.1:p.Tyr198LeufsTer?
XM_011531170.1:c.657_660del	XP_011529472.1:p.Tyr220LeufsTer?
XM_011531171.1:c.636_639del	XP_011529473.1:p.Tyr213LeufsTer?
XM_011531172.1:c.636_639del	XP_011529474.1:p.Tyr213LeufsTer?
XM_011531173.1:c.591_594del	XP_011529475.1:p.Tyr198LeufsTer?
XM_011531173.2:c.591_594del	XP_011529475.1:p.Tyr198LeufsTer?
XM_017029547.1:c.636_639del	XP_016885036.1:p.Tyr213LeufsTer?
XM_017029548.1:c.636_639del	XP_016885037.1:p.Tyr213LeufsTer?
XM_017029549.1:c.591_594del	XP_016885038.1:p.Tyr198LeufsTer?
XM_017029550.1:c.480_483del	XP_016885039.1:p.Tyr161LeufsTer?
XM_017029551.2:c.-154_-151del	XP_016885040.1:n.-154_-151del
NM_000252.3:c.591_594del MANE Select	NP_000243.1:p.Tyr198LeufsTer?
NM_001376906.1:c.591_594del	NP_001363835.1:p.Tyr198LeufsTer?
NM_001376907.1:c.480_483del	NP_001363836.1:p.Tyr161LeufsTer?
NM_001376908.1:c.591_594del	NP_001363837.1:p.Tyr198LeufsTer?