Canonical Allele Identifier: CA2695238628

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641332_150641334delinsAA , CM000685.2:g.150641332_150641334delinsAA	GRCh38
NC_000023.10:g.149809805_149809807delinsAA , CM000685.1:g.149809805_149809807delinsAA	GRCh37
NC_000023.9:g.149560463_149560465delinsAA	NCBI36
NG_008199.1:g.77759_77761delinsAA , LRG_839:g.77759_77761delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*125_*127delinsAA	ENSP00000509844.1:n.*125_*127delinsAA
ENST00000685439.1:c.247_249delinsAA	ENSP00000508454.1:p.Tyr83AsnfsTer?
ENST00000685944.1:c.592_594delinsAA	ENSP00000509266.1:p.Tyr198AsnfsTer?
ENST00000686212.1:n.194_196delinsAA
ENST00000687215.1:c.*347_*349delinsAA	ENSP00000509706.1:n.*347_*349delinsAA
ENST00000688152.1:c.*36_*38delinsAA	ENSP00000509360.1:n.*36_*38delinsAA
ENST00000688403.1:c.-153_-151delinsAA	ENSP00000508944.1:n.-153_-151delinsAA
ENST00000689314.1:c.637_639delinsAA	ENSP00000510607.1:p.Tyr213AsnfsTer?
ENST00000689694.1:c.592_594delinsAA	ENSP00000508718.1:p.Tyr198AsnfsTer?
ENST00000689810.1:c.*241_*243delinsAA	ENSP00000510635.1:n.*241_*243delinsAA
ENST00000690282.1:c.-153_-151delinsAA	ENSP00000509809.1:n.-153_-151delinsAA
ENST00000690351.1:c.*244_*246delinsAA	ENSP00000509728.1:n.*244_*246delinsAA
ENST00000691232.1:c.247_249delinsAA	ENSP00000509675.1:p.Tyr83AsnfsTer?
ENST00000691482.1:n.1607_1609delinsAA
ENST00000691686.1:c.592_594delinsAA	ENSP00000509784.1:p.Tyr198AsnfsTer?
ENST00000691851.1:c.592_594delinsAA	ENSP00000510106.1:p.Tyr198AsnfsTer?
ENST00000692015.1:c.379_381delinsAA	ENSP00000510634.1:p.Tyr127AsnfsTer?
ENST00000692638.1:c.*397_*399delinsAA	ENSP00000509412.1:n.*397_*399delinsAA
ENST00000692852.1:c.592_594delinsAA	ENSP00000510337.1:p.Tyr198AsnfsTer?
ENST00000692915.1:c.*799_*801delinsAA	ENSP00000508547.1:n.*799_*801delinsAA
ENST00000370396.7:c.592_594delinsAA MANE Select	ENSP00000359423.3:p.Tyr198AsnfsTer?
ENST00000306167.11:n.459_461delinsAA
ENST00000370396.6:c.592_594delinsAA	ENSP00000359423.2:p.Tyr198AsnfsTer?
ENST00000490530.1:n.531_533delinsAA
NM_000252.2:c.592_594delinsAA , LRG_839t1:c.592_594delinsAA	NP_000243.1:p.Tyr198AsnfsTer?
XM_005274687.2:c.592_594delinsAA	XP_005274744.1:p.Tyr198AsnfsTer?
XM_011531170.1:c.658_660delinsAA	XP_011529472.1:p.Tyr220AsnfsTer?
XM_011531171.1:c.637_639delinsAA	XP_011529473.1:p.Tyr213AsnfsTer?
XM_011531172.1:c.637_639delinsAA	XP_011529474.1:p.Tyr213AsnfsTer?
XM_011531173.1:c.592_594delinsAA	XP_011529475.1:p.Tyr198AsnfsTer?
XM_011531173.2:c.592_594delinsAA	XP_011529475.1:p.Tyr198AsnfsTer?
XM_017029547.1:c.637_639delinsAA	XP_016885036.1:p.Tyr213AsnfsTer?
XM_017029548.1:c.637_639delinsAA	XP_016885037.1:p.Tyr213AsnfsTer?
XM_017029549.1:c.592_594delinsAA	XP_016885038.1:p.Tyr198AsnfsTer?
XM_017029550.1:c.481_483delinsAA	XP_016885039.1:p.Tyr161AsnfsTer?
XM_017029551.2:c.-153_-151delinsAA	XP_016885040.1:n.-153_-151delinsAA
NM_000252.3:c.592_594delinsAA MANE Select	NP_000243.1:p.Tyr198AsnfsTer?
NM_001376906.1:c.592_594delinsAA	NP_001363835.1:p.Tyr198AsnfsTer?
NM_001376907.1:c.481_483delinsAA	NP_001363836.1:p.Tyr161AsnfsTer?
NM_001376908.1:c.592_594delinsAA	NP_001363837.1:p.Tyr198AsnfsTer?