Canonical Allele Identifier: CA271807

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158931
• ClinVar RCV Id: RCV000146410
• dbSNP Id: rs587783788
• MyVariant Identifiers: chrX:g.149767058_149767060del (hg19) ; chrX:g.150598594_150598596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150598594_150598596del , CM000685.2:g.150598594_150598596del	GRCh38
NC_000023.10:g.149767058_149767060del , CM000685.1:g.149767058_149767060del	GRCh37
NC_000023.9:g.149517716_149517718del	NCBI36
NG_008199.1:g.35012_35014del , LRG_839:g.35012_35014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.136+2024_136+2026del	ENSP00000509844.1:n.136+2024_136+2026del
ENST00000685439.1:c.-3-20444_-3-20442del	ENSP00000508454.1:n.-3-20444_-3-20442del
ENST00000685944.1:c.139_141del	ENSP00000509266.1:p.Lys47del
ENST00000687215.1:c.-147_-145del	ENSP00000509706.1:n.-147_-145del
ENST00000687365.1:n.194_196del
ENST00000688152.1:c.139_141del	ENSP00000509360.1:p.Lys47del
ENST00000688403.1:c.-301+29732_-301+29734del	ENSP00000508944.1:n.-301+29732_-301+29734del
ENST00000689314.1:c.139_141del	ENSP00000510607.1:p.Lys47del
ENST00000689694.1:c.139_141del	ENSP00000508718.1:p.Lys47del
ENST00000689810.1:c.139_141del	ENSP00000510635.1:p.Lys47del
ENST00000690282.1:c.-301+29876_-301+29878del	ENSP00000509809.1:n.-301+29876_-301+29878del
ENST00000690351.1:c.136+2024_136+2026del	ENSP00000509728.1:n.136+2024_136+2026del
ENST00000691232.1:c.-3-20444_-3-20442del	ENSP00000509675.1:n.-3-20444_-3-20442del
ENST00000691686.1:c.139_141del	ENSP00000509784.1:p.Lys47del
ENST00000691851.1:c.139_141del	ENSP00000510106.1:p.Lys47del
ENST00000692015.1:c.139_141del	ENSP00000510634.1:p.Lys47del
ENST00000692638.1:c.136+2024_136+2026del	ENSP00000509412.1:n.136+2024_136+2026del
ENST00000692852.1:c.139_141del	ENSP00000510337.1:p.Lys47del
ENST00000692915.1:c.139_141del	ENSP00000508547.1:p.Lys47del
ENST00000693422.1:n.200_202del
ENST00000370396.7:c.139_141del MANE Select	ENSP00000359423.3:p.Lys47del
ENST00000306167.11:n.178_180del
ENST00000370396.6:c.139_141del	ENSP00000359423.2:p.Lys47del
ENST00000424519.1:c.139_141del	ENSP00000400699.1:p.Lys47del
ENST00000490530.1:n.170+2024_170+2026del
NM_000252.2:c.139_141del , LRG_839t1:c.139_141del	NP_000243.1:p.Lys47del
XM_005274687.2:c.139_141del	XP_005274744.1:p.Lys47del
XM_011531170.1:c.160_162del	XP_011529472.1:p.Lys54del
XM_011531171.1:c.139_141del	XP_011529473.1:p.Lys47del
XM_011531172.1:c.139_141del	XP_011529474.1:p.Lys47del
XM_011531173.1:c.139_141del	XP_011529475.1:p.Lys47del
XM_011531173.2:c.139_141del	XP_011529475.1:p.Lys47del
XM_017029547.1:c.139_141del	XP_016885036.1:p.Lys47del
XM_017029548.1:c.139_141del	XP_016885037.1:p.Lys47del
XM_017029549.1:c.139_141del	XP_016885038.1:p.Lys47del
XM_017029550.1:c.139_141del	XP_016885039.1:p.Lys47del
NM_000252.3:c.139_141del MANE Select	NP_000243.1:p.Lys47del
NM_001376906.1:c.139_141del	NP_001363835.1:p.Lys47del
NM_001376907.1:c.139_141del	NP_001363836.1:p.Lys47del
NM_001376908.1:c.139_141del	NP_001363837.1:p.Lys47del