Canonical Allele Identifier: CA2465380839

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641341_150641342delinsCT , CM000685.2:g.150641341_150641342delinsCT	GRCh38
NC_000023.10:g.149809814_149809815delinsCT , CM000685.1:g.149809814_149809815delinsCT	GRCh37
NC_000023.9:g.149560472_149560473delinsCT	NCBI36
NG_008199.1:g.77768_77769delinsCT , LRG_839:g.77768_77769delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*134_*135delinsCT	ENSP00000509844.1:n.*134_*135delinsCT
ENST00000685439.1:c.256_257delinsCT	ENSP00000508454.1:p.Leu86=
ENST00000685944.1:c.601_602delinsCT	ENSP00000509266.1:p.Leu201=
ENST00000686212.1:n.203_204delinsCT
ENST00000687215.1:c.*356_*357delinsCT	ENSP00000509706.1:n.*356_*357delinsCT
ENST00000688152.1:c.*45_*46delinsCT	ENSP00000509360.1:n.*45_*46delinsCT
ENST00000688403.1:c.-144_-143delinsCT	ENSP00000508944.1:n.-144_-143delinsCT
ENST00000689314.1:c.646_647delinsCT	ENSP00000510607.1:p.Leu216=
ENST00000689694.1:c.601_602delinsCT	ENSP00000508718.1:p.Leu201=
ENST00000689810.1:c.*250_*251delinsCT	ENSP00000510635.1:n.*250_*251delinsCT
ENST00000690282.1:c.-144_-143delinsCT	ENSP00000509809.1:n.-144_-143delinsCT
ENST00000690351.1:c.*253_*254delinsCT	ENSP00000509728.1:n.*253_*254delinsCT
ENST00000691232.1:c.256_257delinsCT	ENSP00000509675.1:p.Leu86=
ENST00000691482.1:n.1616_1617delinsCT
ENST00000691686.1:c.601_602delinsCT	ENSP00000509784.1:p.Leu201=
ENST00000691851.1:c.601_602delinsCT	ENSP00000510106.1:p.Leu201=
ENST00000692015.1:c.388_389delinsCT	ENSP00000510634.1:p.Leu130=
ENST00000692638.1:c.*406_*407delinsCT	ENSP00000509412.1:n.*406_*407delinsCT
ENST00000692852.1:c.601_602delinsCT	ENSP00000510337.1:p.Leu201=
ENST00000692915.1:c.*808_*809delinsCT	ENSP00000508547.1:n.*808_*809delinsCT
ENST00000370396.7:c.601_602delinsCT MANE Select	ENSP00000359423.3:p.Leu201=
ENST00000306167.11:n.468_469delinsCT
ENST00000370396.6:c.601_602delinsCT	ENSP00000359423.2:p.Leu201=
ENST00000490530.1:n.540_541delinsCT
NM_000252.2:c.601_602delinsCT , LRG_839t1:c.601_602delinsCT	NP_000243.1:p.Leu201=
XM_005274687.2:c.601_602delinsCT	XP_005274744.1:p.Leu201=
XM_011531170.1:c.667_668delinsCT	XP_011529472.1:p.Leu223=
XM_011531171.1:c.646_647delinsCT	XP_011529473.1:p.Leu216=
XM_011531172.1:c.646_647delinsCT	XP_011529474.1:p.Leu216=
XM_011531173.1:c.601_602delinsCT	XP_011529475.1:p.Leu201=
XM_011531173.2:c.601_602delinsCT	XP_011529475.1:p.Leu201=
XM_017029547.1:c.646_647delinsCT	XP_016885036.1:p.Leu216=
XM_017029548.1:c.646_647delinsCT	XP_016885037.1:p.Leu216=
XM_017029549.1:c.601_602delinsCT	XP_016885038.1:p.Leu201=
XM_017029550.1:c.490_491delinsCT	XP_016885039.1:p.Leu164=
XM_017029551.2:c.-144_-143delinsCT	XP_016885040.1:n.-144_-143delinsCT
NM_000252.3:c.601_602delinsCT MANE Select	NP_000243.1:p.Leu201=
NM_001376906.1:c.601_602delinsCT	NP_001363835.1:p.Leu201=
NM_001376907.1:c.490_491delinsCT	NP_001363836.1:p.Leu164=
NM_001376908.1:c.601_602delinsCT	NP_001363837.1:p.Leu201=