Canonical Allele Identifier: CA2695236699

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645707_150645708del , CM000685.2:g.150645707_150645708del	GRCh38
NC_000023.10:g.149814180_149814181del , CM000685.1:g.149814180_149814181del	GRCh37
NC_000023.9:g.149564838_149564839del	NCBI36
NG_008199.1:g.82134_82135del , LRG_839:g.82134_82135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*236_*237del	ENSP00000509844.1:n.*236_*237del
ENST00000685439.1:c.358_359del	ENSP00000508454.1:p.Asn120Ter
ENST00000685944.1:c.703_704del	ENSP00000509266.1:p.Asn235Ter
ENST00000686212.1:n.305_306del
ENST00000687215.1:c.*458_*459del	ENSP00000509706.1:n.*458_*459del
ENST00000688152.1:c.*147_*148del	ENSP00000509360.1:n.*147_*148del
ENST00000688403.1:c.-42_-41del	ENSP00000508944.1:n.-42_-41del
ENST00000689314.1:c.748_749del	ENSP00000510607.1:p.Asn250Ter
ENST00000689694.1:c.703_704del	ENSP00000508718.1:p.Asn235Ter
ENST00000689810.1:c.*352_*353del	ENSP00000510635.1:n.*352_*353del
ENST00000690282.1:c.-42_-41del	ENSP00000509809.1:n.-42_-41del
ENST00000690351.1:c.*355_*356del	ENSP00000509728.1:n.*355_*356del
ENST00000691232.1:c.358_359del	ENSP00000509675.1:p.Asn120Ter
ENST00000691482.1:n.1718_1719del
ENST00000691686.1:c.703_704del	ENSP00000509784.1:p.Asn235Ter
ENST00000691851.1:c.703_704del	ENSP00000510106.1:p.Asn235Ter
ENST00000692015.1:c.490_491del	ENSP00000510634.1:p.Asn164Ter
ENST00000692638.1:c.*508_*509del	ENSP00000509412.1:n.*508_*509del
ENST00000692852.1:c.679-4009_679-4008del	ENSP00000510337.1:n.679-4009_679-4008del
ENST00000692915.1:c.*910_*911del	ENSP00000508547.1:n.*910_*911del
ENST00000370396.7:c.703_704del MANE Select	ENSP00000359423.3:p.Asn235Ter
ENST00000306167.11:n.570_571del
ENST00000370396.6:c.703_704del	ENSP00000359423.2:p.Asn235Ter
ENST00000490530.1:n.642_643del
NM_000252.2:c.703_704del , LRG_839t1:c.703_704del	NP_000243.1:p.Asn235Ter
XM_005274687.2:c.703_704del	XP_005274744.1:p.Asn235Ter
XM_011531170.1:c.769_770del	XP_011529472.1:p.Asn257Ter
XM_011531171.1:c.748_749del	XP_011529473.1:p.Asn250Ter
XM_011531172.1:c.748_749del	XP_011529474.1:p.Asn250Ter
XM_011531173.1:c.703_704del	XP_011529475.1:p.Asn235Ter
XM_011531173.2:c.703_704del	XP_011529475.1:p.Asn235Ter
XM_017029547.1:c.748_749del	XP_016885036.1:p.Asn250Ter
XM_017029548.1:c.748_749del	XP_016885037.1:p.Asn250Ter
XM_017029549.1:c.703_704del	XP_016885038.1:p.Asn235Ter
XM_017029550.1:c.592_593del	XP_016885039.1:p.Asn198Ter
XM_017029551.2:c.-42_-41del	XP_016885040.1:n.-42_-41del
NM_000252.3:c.703_704del MANE Select	NP_000243.1:p.Asn235Ter
NM_001376906.1:c.703_704del	NP_001363835.1:p.Asn235Ter
NM_001376907.1:c.592_593del	NP_001363836.1:p.Asn198Ter
NM_001376908.1:c.703_704del	NP_001363837.1:p.Asn235Ter