Canonical Allele Identifier: CA873022179

Gene: MTM1

Linked Data

• dbSNP Id: rs1230283499
• gnomAD v3: X-150645647-TTTC-T
• gnomAD v4: X-150645647-TTTC-T
• MyVariant Identifiers: chrX:g.150645648_150645650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645650_150645652del , CM000685.2:g.150645650_150645652del	GRCh38
NC_000023.10:g.149814123_149814125del , CM000685.1:g.149814123_149814125del	GRCh37
NC_000023.9:g.149564781_149564783del	NCBI36
NG_008199.1:g.82077_82079del , LRG_839:g.82077_82079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*212-33_*212-31del	ENSP00000509844.1:n.*212-33_*212-31del
ENST00000685439.1:c.334-33_334-31del	ENSP00000508454.1:n.334-33_334-31del
ENST00000685944.1:c.679-33_679-31del	ENSP00000509266.1:n.679-33_679-31del
ENST00000686212.1:n.281-33_281-31del
ENST00000687215.1:c.*434-33_*434-31del	ENSP00000509706.1:n.*434-33_*434-31del
ENST00000688152.1:c.*123-33_*123-31del	ENSP00000509360.1:n.*123-33_*123-31del
ENST00000688403.1:c.-66-33_-66-31del	ENSP00000508944.1:n.-66-33_-66-31del
ENST00000689314.1:c.724-33_724-31del	ENSP00000510607.1:n.724-33_724-31del
ENST00000689694.1:c.679-33_679-31del	ENSP00000508718.1:n.679-33_679-31del
ENST00000689810.1:c.*328-33_*328-31del	ENSP00000510635.1:n.*328-33_*328-31del
ENST00000690282.1:c.-66-33_-66-31del	ENSP00000509809.1:n.-66-33_-66-31del
ENST00000690351.1:c.*331-33_*331-31del	ENSP00000509728.1:n.*331-33_*331-31del
ENST00000691232.1:c.334-33_334-31del	ENSP00000509675.1:n.334-33_334-31del
ENST00000691482.1:n.1694-33_1694-31del
ENST00000691686.1:c.679-33_679-31del	ENSP00000509784.1:n.679-33_679-31del
ENST00000691851.1:c.679-33_679-31del	ENSP00000510106.1:n.679-33_679-31del
ENST00000692015.1:c.466-33_466-31del	ENSP00000510634.1:n.466-33_466-31del
ENST00000692638.1:c.*484-33_*484-31del	ENSP00000509412.1:n.*484-33_*484-31del
ENST00000692852.1:c.679-4066_679-4064del	ENSP00000510337.1:n.679-4066_679-4064del
ENST00000692915.1:c.*886-33_*886-31del	ENSP00000508547.1:n.*886-33_*886-31del
ENST00000370396.7:c.679-33_679-31del MANE Select	ENSP00000359423.3:n.679-33_679-31del
ENST00000306167.11:n.546-33_546-31del
ENST00000370396.6:c.679-33_679-31del	ENSP00000359423.2:n.679-33_679-31del
ENST00000490530.1:n.618-33_618-31del
NM_000252.2:c.679-33_679-31del , LRG_839t1:c.679-33_679-31del	NP_000243.1:n.679-33_679-31del
XM_005274687.2:c.679-33_679-31del	XP_005274744.1:n.679-33_679-31del
XM_011531170.1:c.745-33_745-31del	XP_011529472.1:n.745-33_745-31del
XM_011531171.1:c.724-33_724-31del	XP_011529473.1:n.724-33_724-31del
XM_011531172.1:c.724-33_724-31del	XP_011529474.1:n.724-33_724-31del
XM_011531173.1:c.679-33_679-31del	XP_011529475.1:n.679-33_679-31del
XM_011531173.2:c.679-33_679-31del	XP_011529475.1:n.679-33_679-31del
XM_017029547.1:c.724-33_724-31del	XP_016885036.1:n.724-33_724-31del
XM_017029548.1:c.724-33_724-31del	XP_016885037.1:n.724-33_724-31del
XM_017029549.1:c.679-33_679-31del	XP_016885038.1:n.679-33_679-31del
XM_017029550.1:c.568-33_568-31del	XP_016885039.1:n.568-33_568-31del
XM_017029551.2:c.-66-33_-66-31del	XP_016885040.1:n.-66-33_-66-31del
NM_000252.3:c.679-33_679-31del MANE Select	NP_000243.1:n.679-33_679-31del
NM_001376906.1:c.679-33_679-31del	NP_001363835.1:n.679-33_679-31del
NM_001376907.1:c.568-33_568-31del	NP_001363836.1:n.568-33_568-31del
NM_001376908.1:c.679-33_679-31del	NP_001363837.1:n.679-33_679-31del