Canonical Allele Identifier: CA10539146

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1980940
• ClinVar RCV Id: RCV002751121
• dbSNP Id: rs782628057
• ExAC: X:149814130 GCTTAAA / G
• gnomAD v2: X-149814130-GCTTAAA-G
• gnomAD v3: X-150645657-GCTTAAA-G
• gnomAD v4: X-150645657-GCTTAAA-G
• MyVariant Identifiers: chrX:g.149814131_149814136del (hg19) ; chrX:g.150645658_150645663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645661_150645666del , CM000685.2:g.150645661_150645666del	GRCh38
NC_000023.10:g.149814134_149814139del , CM000685.1:g.149814134_149814139del	GRCh37
NC_000023.9:g.149564792_149564797del	NCBI36
NG_008199.1:g.82088_82093del , LRG_839:g.82088_82093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*212-22_*212-17del	ENSP00000509844.1:n.*212-22_*212-17del
ENST00000685439.1:c.334-22_334-17del	ENSP00000508454.1:n.334-22_334-17del
ENST00000685944.1:c.679-22_679-17del	ENSP00000509266.1:n.679-22_679-17del
ENST00000686212.1:n.281-22_281-17del
ENST00000687215.1:c.*434-22_*434-17del	ENSP00000509706.1:n.*434-22_*434-17del
ENST00000688152.1:c.*123-22_*123-17del	ENSP00000509360.1:n.*123-22_*123-17del
ENST00000688403.1:c.-66-22_-66-17del	ENSP00000508944.1:n.-66-22_-66-17del
ENST00000689314.1:c.724-22_724-17del	ENSP00000510607.1:n.724-22_724-17del
ENST00000689694.1:c.679-22_679-17del	ENSP00000508718.1:n.679-22_679-17del
ENST00000689810.1:c.*328-22_*328-17del	ENSP00000510635.1:n.*328-22_*328-17del
ENST00000690282.1:c.-66-22_-66-17del	ENSP00000509809.1:n.-66-22_-66-17del
ENST00000690351.1:c.*331-22_*331-17del	ENSP00000509728.1:n.*331-22_*331-17del
ENST00000691232.1:c.334-22_334-17del	ENSP00000509675.1:n.334-22_334-17del
ENST00000691482.1:n.1694-22_1694-17del
ENST00000691686.1:c.679-22_679-17del	ENSP00000509784.1:n.679-22_679-17del
ENST00000691851.1:c.679-22_679-17del	ENSP00000510106.1:n.679-22_679-17del
ENST00000692015.1:c.466-22_466-17del	ENSP00000510634.1:n.466-22_466-17del
ENST00000692638.1:c.*484-22_*484-17del	ENSP00000509412.1:n.*484-22_*484-17del
ENST00000692852.1:c.679-4055_679-4050del	ENSP00000510337.1:n.679-4055_679-4050del
ENST00000692915.1:c.*886-22_*886-17del	ENSP00000508547.1:n.*886-22_*886-17del
ENST00000370396.7:c.679-22_679-17del MANE Select	ENSP00000359423.3:n.679-22_679-17del
ENST00000306167.11:n.546-22_546-17del
ENST00000370396.6:c.679-22_679-17del	ENSP00000359423.2:n.679-22_679-17del
ENST00000490530.1:n.618-22_618-17del
NM_000252.2:c.679-22_679-17del , LRG_839t1:c.679-22_679-17del	NP_000243.1:n.679-22_679-17del
XM_005274687.2:c.679-22_679-17del	XP_005274744.1:n.679-22_679-17del
XM_011531170.1:c.745-22_745-17del	XP_011529472.1:n.745-22_745-17del
XM_011531171.1:c.724-22_724-17del	XP_011529473.1:n.724-22_724-17del
XM_011531172.1:c.724-22_724-17del	XP_011529474.1:n.724-22_724-17del
XM_011531173.1:c.679-22_679-17del	XP_011529475.1:n.679-22_679-17del
XM_011531173.2:c.679-22_679-17del	XP_011529475.1:n.679-22_679-17del
XM_017029547.1:c.724-22_724-17del	XP_016885036.1:n.724-22_724-17del
XM_017029548.1:c.724-22_724-17del	XP_016885037.1:n.724-22_724-17del
XM_017029549.1:c.679-22_679-17del	XP_016885038.1:n.679-22_679-17del
XM_017029550.1:c.568-22_568-17del	XP_016885039.1:n.568-22_568-17del
XM_017029551.2:c.-66-22_-66-17del	XP_016885040.1:n.-66-22_-66-17del
NM_000252.3:c.679-22_679-17del MANE Select	NP_000243.1:n.679-22_679-17del
NM_001376906.1:c.679-22_679-17del	NP_001363835.1:n.679-22_679-17del
NM_001376907.1:c.568-22_568-17del	NP_001363836.1:n.568-22_568-17del
NM_001376908.1:c.679-22_679-17del	NP_001363837.1:n.679-22_679-17del