Canonical Allele Identifier: CA2465380835

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641328_150641332delinsCACTT , CM000685.2:g.150641328_150641332delinsCACTT	GRCh38
NC_000023.10:g.149809801_149809805delinsCACTT , CM000685.1:g.149809801_149809805delinsCACTT	GRCh37
NC_000023.9:g.149560459_149560463delinsCACTT	NCBI36
NG_008199.1:g.77755_77759delinsCACTT , LRG_839:g.77755_77759delinsCACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*121_*125delinsCACTT	ENSP00000509844.1:n.*121_*125delinsCACTT
ENST00000685439.1:c.243_247delinsCACTT	ENSP00000508454.1:p.Asp81=
ENST00000685944.1:c.588_592delinsCACTT	ENSP00000509266.1:p.Asp196=
ENST00000686212.1:n.190_194delinsCACTT
ENST00000687215.1:c.*343_*347delinsCACTT	ENSP00000509706.1:n.*343_*347delinsCACTT
ENST00000688152.1:c.*32_*36delinsCACTT	ENSP00000509360.1:n.*32_*36delinsCACTT
ENST00000688403.1:c.-157_-153delinsCACTT	ENSP00000508944.1:n.-157_-153delinsCACTT
ENST00000689314.1:c.633_637delinsCACTT	ENSP00000510607.1:p.Asp211=
ENST00000689694.1:c.588_592delinsCACTT	ENSP00000508718.1:p.Asp196=
ENST00000689810.1:c.*237_*241delinsCACTT	ENSP00000510635.1:n.*237_*241delinsCACTT
ENST00000690282.1:c.-157_-153delinsCACTT	ENSP00000509809.1:n.-157_-153delinsCACTT
ENST00000690351.1:c.*240_*244delinsCACTT	ENSP00000509728.1:n.*240_*244delinsCACTT
ENST00000691232.1:c.243_247delinsCACTT	ENSP00000509675.1:p.Asp81=
ENST00000691482.1:n.1603_1607delinsCACTT
ENST00000691686.1:c.588_592delinsCACTT	ENSP00000509784.1:p.Asp196=
ENST00000691851.1:c.588_592delinsCACTT	ENSP00000510106.1:p.Asp196=
ENST00000692015.1:c.375_379delinsCACTT	ENSP00000510634.1:p.Asp125=
ENST00000692638.1:c.*393_*397delinsCACTT	ENSP00000509412.1:n.*393_*397delinsCACTT
ENST00000692852.1:c.588_592delinsCACTT	ENSP00000510337.1:p.Asp196=
ENST00000692915.1:c.*795_*799delinsCACTT	ENSP00000508547.1:n.*795_*799delinsCACTT
ENST00000370396.7:c.588_592delinsCACTT MANE Select	ENSP00000359423.3:p.Asp196=
ENST00000306167.11:n.455_459delinsCACTT
ENST00000370396.6:c.588_592delinsCACTT	ENSP00000359423.2:p.Asp196=
ENST00000490530.1:n.527_531delinsCACTT
NM_000252.2:c.588_592delinsCACTT , LRG_839t1:c.588_592delinsCACTT	NP_000243.1:p.Asp196=
XM_005274687.2:c.588_592delinsCACTT	XP_005274744.1:p.Asp196=
XM_011531170.1:c.654_658delinsCACTT	XP_011529472.1:p.Asp218=
XM_011531171.1:c.633_637delinsCACTT	XP_011529473.1:p.Asp211=
XM_011531172.1:c.633_637delinsCACTT	XP_011529474.1:p.Asp211=
XM_011531173.1:c.588_592delinsCACTT	XP_011529475.1:p.Asp196=
XM_011531173.2:c.588_592delinsCACTT	XP_011529475.1:p.Asp196=
XM_017029547.1:c.633_637delinsCACTT	XP_016885036.1:p.Asp211=
XM_017029548.1:c.633_637delinsCACTT	XP_016885037.1:p.Asp211=
XM_017029549.1:c.588_592delinsCACTT	XP_016885038.1:p.Asp196=
XM_017029550.1:c.477_481delinsCACTT	XP_016885039.1:p.Asp159=
XM_017029551.2:c.-157_-153delinsCACTT	XP_016885040.1:n.-157_-153delinsCACTT
NM_000252.3:c.588_592delinsCACTT MANE Select	NP_000243.1:p.Asp196=
NM_001376906.1:c.588_592delinsCACTT	NP_001363835.1:p.Asp196=
NM_001376907.1:c.477_481delinsCACTT	NP_001363836.1:p.Asp159=
NM_001376908.1:c.588_592delinsCACTT	NP_001363837.1:p.Asp196=