Canonical Allele Identifier: CA10581422

Gene: MTM1

Linked Data

• ClinVar Variation Id: 235767
• ClinVar RCV Id: RCV000224134
• dbSNP Id: rs878853108
• MyVariant Identifiers: chrX:g.149809777_149809779del (hg19) ; chrX:g.150641304_150641306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641307_150641309del , CM000685.2:g.150641307_150641309del	GRCh38
NC_000023.10:g.149809780_149809782del , CM000685.1:g.149809780_149809782del	GRCh37
NC_000023.9:g.149560438_149560440del	NCBI36
NG_008199.1:g.77734_77736del , LRG_839:g.77734_77736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*100_*102del	ENSP00000509844.1:n.*100_*102del
ENST00000685439.1:c.222_224del	ENSP00000508454.1:p.Asn74del
ENST00000685944.1:c.567_569del	ENSP00000509266.1:p.Asn189del
ENST00000686212.1:n.169_171del
ENST00000687215.1:c.*322_*324del	ENSP00000509706.1:n.*322_*324del
ENST00000688152.1:c.*11_*13del	ENSP00000509360.1:n.*11_*13del
ENST00000688403.1:c.-178_-176del	ENSP00000508944.1:n.-178_-176del
ENST00000689314.1:c.612_614del	ENSP00000510607.1:p.Asn204del
ENST00000689694.1:c.567_569del	ENSP00000508718.1:p.Asn189del
ENST00000689810.1:c.*216_*218del	ENSP00000510635.1:n.*216_*218del
ENST00000690282.1:c.-178_-176del	ENSP00000509809.1:n.-178_-176del
ENST00000690351.1:c.*219_*221del	ENSP00000509728.1:n.*219_*221del
ENST00000691232.1:c.222_224del	ENSP00000509675.1:p.Asn74del
ENST00000691482.1:n.1582_1584del
ENST00000691686.1:c.567_569del	ENSP00000509784.1:p.Asn189del
ENST00000691851.1:c.567_569del	ENSP00000510106.1:p.Asn189del
ENST00000692015.1:c.354_356del	ENSP00000510634.1:p.Asn118del
ENST00000692638.1:c.*372_*374del	ENSP00000509412.1:n.*372_*374del
ENST00000692852.1:c.567_569del	ENSP00000510337.1:p.Asn189del
ENST00000692915.1:c.*774_*776del	ENSP00000508547.1:n.*774_*776del
ENST00000370396.7:c.567_569del MANE Select	ENSP00000359423.3:p.Asn189del
ENST00000306167.11:n.434_436del
ENST00000370396.6:c.567_569del	ENSP00000359423.2:p.Asn189del
ENST00000490530.1:n.506_508del
NM_000252.2:c.567_569del , LRG_839t1:c.567_569del	NP_000243.1:p.Asn189del
XM_005274687.2:c.567_569del	XP_005274744.1:p.Asn189del
XM_011531170.1:c.633_635del	XP_011529472.1:p.Asn211del
XM_011531171.1:c.612_614del	XP_011529473.1:p.Asn204del
XM_011531172.1:c.612_614del	XP_011529474.1:p.Asn204del
XM_011531173.1:c.567_569del	XP_011529475.1:p.Asn189del
XM_011531173.2:c.567_569del	XP_011529475.1:p.Asn189del
XM_017029547.1:c.612_614del	XP_016885036.1:p.Asn204del
XM_017029548.1:c.612_614del	XP_016885037.1:p.Asn204del
XM_017029549.1:c.567_569del	XP_016885038.1:p.Asn189del
XM_017029550.1:c.456_458del	XP_016885039.1:p.Asn152del
XM_017029551.2:c.-178_-176del	XP_016885040.1:n.-178_-176del
NM_000252.3:c.567_569del MANE Select	NP_000243.1:p.Asn189del
NM_001376906.1:c.567_569del	NP_001363835.1:p.Asn189del
NM_001376907.1:c.456_458del	NP_001363836.1:p.Asn152del
NM_001376908.1:c.567_569del	NP_001363837.1:p.Asn189del