Canonical Allele Identifier: CA2465380848

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641362_150641363delinsGC , CM000685.2:g.150641362_150641363delinsGC	GRCh38
NC_000023.10:g.149809835_149809836delinsGC , CM000685.1:g.149809835_149809836delinsGC	GRCh37
NC_000023.9:g.149560493_149560494delinsGC	NCBI36
NG_008199.1:g.77789_77790delinsGC , LRG_839:g.77789_77790delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*155_*156delinsGC	ENSP00000509844.1:n.*155_*156delinsGC
ENST00000685439.1:c.277_278delinsGC	ENSP00000508454.1:p.Ala93=
ENST00000685944.1:c.622_623delinsGC	ENSP00000509266.1:p.Ala208=
ENST00000686212.1:n.224_225delinsGC
ENST00000687215.1:c.*377_*378delinsGC	ENSP00000509706.1:n.*377_*378delinsGC
ENST00000688152.1:c.*66_*67delinsGC	ENSP00000509360.1:n.*66_*67delinsGC
ENST00000688403.1:c.-123_-122delinsGC	ENSP00000508944.1:n.-123_-122delinsGC
ENST00000689314.1:c.667_668delinsGC	ENSP00000510607.1:p.Ala223=
ENST00000689694.1:c.622_623delinsGC	ENSP00000508718.1:p.Ala208=
ENST00000689810.1:c.*271_*272delinsGC	ENSP00000510635.1:n.*271_*272delinsGC
ENST00000690282.1:c.-123_-122delinsGC	ENSP00000509809.1:n.-123_-122delinsGC
ENST00000690351.1:c.*274_*275delinsGC	ENSP00000509728.1:n.*274_*275delinsGC
ENST00000691232.1:c.277_278delinsGC	ENSP00000509675.1:p.Ala93=
ENST00000691482.1:n.1637_1638delinsGC
ENST00000691686.1:c.622_623delinsGC	ENSP00000509784.1:p.Ala208=
ENST00000691851.1:c.622_623delinsGC	ENSP00000510106.1:p.Ala208=
ENST00000692015.1:c.409_410delinsGC	ENSP00000510634.1:p.Ala137=
ENST00000692638.1:c.*427_*428delinsGC	ENSP00000509412.1:n.*427_*428delinsGC
ENST00000692852.1:c.622_623delinsGC	ENSP00000510337.1:p.Ala208=
ENST00000692915.1:c.*829_*830delinsGC	ENSP00000508547.1:n.*829_*830delinsGC
ENST00000370396.7:c.622_623delinsGC MANE Select	ENSP00000359423.3:p.Ala208=
ENST00000306167.11:n.489_490delinsGC
ENST00000370396.6:c.622_623delinsGC	ENSP00000359423.2:p.Ala208=
ENST00000490530.1:n.561_562delinsGC
NM_000252.2:c.622_623delinsGC , LRG_839t1:c.622_623delinsGC	NP_000243.1:p.Ala208=
XM_005274687.2:c.622_623delinsGC	XP_005274744.1:p.Ala208=
XM_011531170.1:c.688_689delinsGC	XP_011529472.1:p.Ala230=
XM_011531171.1:c.667_668delinsGC	XP_011529473.1:p.Ala223=
XM_011531172.1:c.667_668delinsGC	XP_011529474.1:p.Ala223=
XM_011531173.1:c.622_623delinsGC	XP_011529475.1:p.Ala208=
XM_011531173.2:c.622_623delinsGC	XP_011529475.1:p.Ala208=
XM_017029547.1:c.667_668delinsGC	XP_016885036.1:p.Ala223=
XM_017029548.1:c.667_668delinsGC	XP_016885037.1:p.Ala223=
XM_017029549.1:c.622_623delinsGC	XP_016885038.1:p.Ala208=
XM_017029550.1:c.511_512delinsGC	XP_016885039.1:p.Ala171=
XM_017029551.2:c.-123_-122delinsGC	XP_016885040.1:n.-123_-122delinsGC
NM_000252.3:c.622_623delinsGC MANE Select	NP_000243.1:p.Ala208=
NM_001376906.1:c.622_623delinsGC	NP_001363835.1:p.Ala208=
NM_001376907.1:c.511_512delinsGC	NP_001363836.1:p.Ala171=
NM_001376908.1:c.622_623delinsGC	NP_001363837.1:p.Ala208=