Canonical Allele Identifier: CA2465380817

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641275_150641282delinsCCCAATCA , CM000685.2:g.150641275_150641282delinsCCCAATCA	GRCh38
NC_000023.10:g.149809748_149809755delinsCCCAATCA , CM000685.1:g.149809748_149809755delinsCCCAATCA	GRCh37
NC_000023.9:g.149560406_149560413delinsCCCAATCA	NCBI36
NG_008199.1:g.77702_77709delinsCCCAATCA , LRG_839:g.77702_77709delinsCCCAATCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*68_*75delinsCCCAATCA	ENSP00000509844.1:n.*68_*75delinsCCCAATCA
ENST00000685439.1:c.190_197delinsCCCAATCA	ENSP00000508454.1:p.Pro64=
ENST00000685944.1:c.535_542delinsCCCAATCA	ENSP00000509266.1:p.Pro179=
ENST00000686212.1:n.137_144delinsCCCAATCA
ENST00000687215.1:c.*290_*297delinsCCCAATCA	ENSP00000509706.1:n.*290_*297delinsCCCAATCA
ENST00000688152.1:c.591_598delinsCCCAATCA	ENSP00000509360.1:p.Cys197=
ENST00000688403.1:c.-210_-203delinsCCCAATCA	ENSP00000508944.1:n.-210_-203delinsCCCAATCA
ENST00000689314.1:c.580_587delinsCCCAATCA	ENSP00000510607.1:p.Pro194=
ENST00000689694.1:c.535_542delinsCCCAATCA	ENSP00000508718.1:p.Pro179=
ENST00000689810.1:c.*184_*191delinsCCCAATCA	ENSP00000510635.1:n.*184_*191delinsCCCAATCA
ENST00000690282.1:c.-210_-203delinsCCCAATCA	ENSP00000509809.1:n.-210_-203delinsCCCAATCA
ENST00000690351.1:c.*187_*194delinsCCCAATCA	ENSP00000509728.1:n.*187_*194delinsCCCAATCA
ENST00000691232.1:c.190_197delinsCCCAATCA	ENSP00000509675.1:p.Pro64=
ENST00000691482.1:n.1550_1557delinsCCCAATCA
ENST00000691686.1:c.535_542delinsCCCAATCA	ENSP00000509784.1:p.Pro179=
ENST00000691851.1:c.535_542delinsCCCAATCA	ENSP00000510106.1:p.Pro179=
ENST00000692015.1:c.322_329delinsCCCAATCA	ENSP00000510634.1:p.Pro108=
ENST00000692638.1:c.*340_*347delinsCCCAATCA	ENSP00000509412.1:n.*340_*347delinsCCCAATCA
ENST00000692852.1:c.535_542delinsCCCAATCA	ENSP00000510337.1:p.Pro179=
ENST00000692915.1:c.*742_*749delinsCCCAATCA	ENSP00000508547.1:n.*742_*749delinsCCCAATCA
ENST00000370396.7:c.535_542delinsCCCAATCA MANE Select	ENSP00000359423.3:p.Pro179=
ENST00000306167.11:n.402_409delinsCCCAATCA
ENST00000370396.6:c.535_542delinsCCCAATCA	ENSP00000359423.2:p.Pro179=
ENST00000490530.1:n.474_481delinsCCCAATCA
NM_000252.2:c.535_542delinsCCCAATCA , LRG_839t1:c.535_542delinsCCCAATCA	NP_000243.1:p.Pro179=
XM_005274687.2:c.535_542delinsCCCAATCA	XP_005274744.1:p.Pro179=
XM_011531170.1:c.601_608delinsCCCAATCA	XP_011529472.1:p.Pro201=
XM_011531171.1:c.580_587delinsCCCAATCA	XP_011529473.1:p.Pro194=
XM_011531172.1:c.580_587delinsCCCAATCA	XP_011529474.1:p.Pro194=
XM_011531173.1:c.535_542delinsCCCAATCA	XP_011529475.1:p.Pro179=
XM_011531173.2:c.535_542delinsCCCAATCA	XP_011529475.1:p.Pro179=
XM_017029547.1:c.580_587delinsCCCAATCA	XP_016885036.1:p.Pro194=
XM_017029548.1:c.580_587delinsCCCAATCA	XP_016885037.1:p.Pro194=
XM_017029549.1:c.535_542delinsCCCAATCA	XP_016885038.1:p.Pro179=
XM_017029550.1:c.424_431delinsCCCAATCA	XP_016885039.1:p.Pro142=
XM_017029551.2:c.-210_-203delinsCCCAATCA	XP_016885040.1:n.-210_-203delinsCCCAATCA
NM_000252.3:c.535_542delinsCCCAATCA MANE Select	NP_000243.1:p.Pro179=
NM_001376906.1:c.535_542delinsCCCAATCA	NP_001363835.1:p.Pro179=
NM_001376907.1:c.424_431delinsCCCAATCA	NP_001363836.1:p.Pro142=
NM_001376908.1:c.535_542delinsCCCAATCA	NP_001363837.1:p.Pro179=