Canonical Allele Identifier: CA2695238630

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641387_150641389dup , CM000685.2:g.150641387_150641389dup	GRCh38
NC_000023.10:g.149809860_149809862dup , CM000685.1:g.149809860_149809862dup	GRCh37
NC_000023.9:g.149560518_149560520dup	NCBI36
NG_008199.1:g.77814_77816dup , LRG_839:g.77814_77816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*180_*182dup	ENSP00000509844.1:n.*180_*182dup
ENST00000685439.1:c.302_304dup	ENSP00000508454.1:p.Val101_Ala102insVal
ENST00000685944.1:c.647_649dup	ENSP00000509266.1:p.Val216_Ala217insVal
ENST00000686212.1:n.249_251dup
ENST00000687215.1:c.*402_*404dup	ENSP00000509706.1:n.*402_*404dup
ENST00000688152.1:c.*91_*93dup	ENSP00000509360.1:n.*91_*93dup
ENST00000688403.1:c.-98_-96dup	ENSP00000508944.1:n.-98_-96dup
ENST00000689314.1:c.692_694dup	ENSP00000510607.1:p.Val231_Ala232insVal
ENST00000689694.1:c.647_649dup	ENSP00000508718.1:p.Val216_Ala217insVal
ENST00000689810.1:c.*296_*298dup	ENSP00000510635.1:n.*296_*298dup
ENST00000690282.1:c.-98_-96dup	ENSP00000509809.1:n.-98_-96dup
ENST00000690351.1:c.*299_*301dup	ENSP00000509728.1:n.*299_*301dup
ENST00000691232.1:c.302_304dup	ENSP00000509675.1:p.Val101_Ala102insVal
ENST00000691482.1:n.1662_1664dup
ENST00000691686.1:c.647_649dup	ENSP00000509784.1:p.Val216_Ala217insVal
ENST00000691851.1:c.647_649dup	ENSP00000510106.1:p.Val216_Ala217insVal
ENST00000692015.1:c.434_436dup	ENSP00000510634.1:p.Val145_Ala146insVal
ENST00000692638.1:c.*452_*454dup	ENSP00000509412.1:n.*452_*454dup
ENST00000692852.1:c.647_649dup	ENSP00000510337.1:p.Val216_Ala217insVal
ENST00000692915.1:c.*854_*856dup	ENSP00000508547.1:n.*854_*856dup
ENST00000370396.7:c.647_649dup MANE Select	ENSP00000359423.3:p.Val216_Ala217insVal
ENST00000306167.11:n.514_516dup
ENST00000370396.6:c.647_649dup	ENSP00000359423.2:p.Val216_Ala217insVal
ENST00000490530.1:n.586_588dup
NM_000252.2:c.647_649dup , LRG_839t1:c.647_649dup	NP_000243.1:p.Val216_Ala217insVal
XM_005274687.2:c.647_649dup	XP_005274744.1:p.Val216_Ala217insVal
XM_011531170.1:c.713_715dup	XP_011529472.1:p.Val238_Ala239insVal
XM_011531171.1:c.692_694dup	XP_011529473.1:p.Val231_Ala232insVal
XM_011531172.1:c.692_694dup	XP_011529474.1:p.Val231_Ala232insVal
XM_011531173.1:c.647_649dup	XP_011529475.1:p.Val216_Ala217insVal
XM_011531173.2:c.647_649dup	XP_011529475.1:p.Val216_Ala217insVal
XM_017029547.1:c.692_694dup	XP_016885036.1:p.Val231_Ala232insVal
XM_017029548.1:c.692_694dup	XP_016885037.1:p.Val231_Ala232insVal
XM_017029549.1:c.647_649dup	XP_016885038.1:p.Val216_Ala217insVal
XM_017029550.1:c.536_538dup	XP_016885039.1:p.Val179_Ala180insVal
XM_017029551.2:c.-98_-96dup	XP_016885040.1:n.-98_-96dup
NM_000252.3:c.647_649dup MANE Select	NP_000243.1:p.Val216_Ala217insVal
NM_001376906.1:c.647_649dup	NP_001363835.1:p.Val216_Ala217insVal
NM_001376907.1:c.536_538dup	NP_001363836.1:p.Val179_Ala180insVal
NM_001376908.1:c.647_649dup	NP_001363837.1:p.Val216_Ala217insVal