Canonical Allele Identifier: CA2465380837

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641333_150641338delinsACCCTG , CM000685.2:g.150641333_150641338delinsACCCTG	GRCh38
NC_000023.10:g.149809806_149809811delinsACCCTG , CM000685.1:g.149809806_149809811delinsACCCTG	GRCh37
NC_000023.9:g.149560464_149560469delinsACCCTG	NCBI36
NG_008199.1:g.77760_77765delinsACCCTG , LRG_839:g.77760_77765delinsACCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*126_*131delinsACCCTG	ENSP00000509844.1:n.*126_*131delinsACCCTG
ENST00000685439.1:c.248_253delinsACCCTG	ENSP00000508454.1:p.Tyr83=
ENST00000685944.1:c.593_598delinsACCCTG	ENSP00000509266.1:p.Tyr198=
ENST00000686212.1:n.195_200delinsACCCTG
ENST00000687215.1:c.*348_*353delinsACCCTG	ENSP00000509706.1:n.*348_*353delinsACCCTG
ENST00000688152.1:c.*37_*42delinsACCCTG	ENSP00000509360.1:n.*37_*42delinsACCCTG
ENST00000688403.1:c.-152_-147delinsACCCTG	ENSP00000508944.1:n.-152_-147delinsACCCTG
ENST00000689314.1:c.638_643delinsACCCTG	ENSP00000510607.1:p.Tyr213=
ENST00000689694.1:c.593_598delinsACCCTG	ENSP00000508718.1:p.Tyr198=
ENST00000689810.1:c.*242_*247delinsACCCTG	ENSP00000510635.1:n.*242_*247delinsACCCTG
ENST00000690282.1:c.-152_-147delinsACCCTG	ENSP00000509809.1:n.-152_-147delinsACCCTG
ENST00000690351.1:c.*245_*250delinsACCCTG	ENSP00000509728.1:n.*245_*250delinsACCCTG
ENST00000691232.1:c.248_253delinsACCCTG	ENSP00000509675.1:p.Tyr83=
ENST00000691482.1:n.1608_1613delinsACCCTG
ENST00000691686.1:c.593_598delinsACCCTG	ENSP00000509784.1:p.Tyr198=
ENST00000691851.1:c.593_598delinsACCCTG	ENSP00000510106.1:p.Tyr198=
ENST00000692015.1:c.380_385delinsACCCTG	ENSP00000510634.1:p.Tyr127=
ENST00000692638.1:c.*398_*403delinsACCCTG	ENSP00000509412.1:n.*398_*403delinsACCCTG
ENST00000692852.1:c.593_598delinsACCCTG	ENSP00000510337.1:p.Tyr198=
ENST00000692915.1:c.*800_*805delinsACCCTG	ENSP00000508547.1:n.*800_*805delinsACCCTG
ENST00000370396.7:c.593_598delinsACCCTG MANE Select	ENSP00000359423.3:p.Tyr198=
ENST00000306167.11:n.460_465delinsACCCTG
ENST00000370396.6:c.593_598delinsACCCTG	ENSP00000359423.2:p.Tyr198=
ENST00000490530.1:n.532_537delinsACCCTG
NM_000252.2:c.593_598delinsACCCTG , LRG_839t1:c.593_598delinsACCCTG	NP_000243.1:p.Tyr198=
XM_005274687.2:c.593_598delinsACCCTG	XP_005274744.1:p.Tyr198=
XM_011531170.1:c.659_664delinsACCCTG	XP_011529472.1:p.Tyr220=
XM_011531171.1:c.638_643delinsACCCTG	XP_011529473.1:p.Tyr213=
XM_011531172.1:c.638_643delinsACCCTG	XP_011529474.1:p.Tyr213=
XM_011531173.1:c.593_598delinsACCCTG	XP_011529475.1:p.Tyr198=
XM_011531173.2:c.593_598delinsACCCTG	XP_011529475.1:p.Tyr198=
XM_017029547.1:c.638_643delinsACCCTG	XP_016885036.1:p.Tyr213=
XM_017029548.1:c.638_643delinsACCCTG	XP_016885037.1:p.Tyr213=
XM_017029549.1:c.593_598delinsACCCTG	XP_016885038.1:p.Tyr198=
XM_017029550.1:c.482_487delinsACCCTG	XP_016885039.1:p.Tyr161=
XM_017029551.2:c.-152_-147delinsACCCTG	XP_016885040.1:n.-152_-147delinsACCCTG
NM_000252.3:c.593_598delinsACCCTG MANE Select	NP_000243.1:p.Tyr198=
NM_001376906.1:c.593_598delinsACCCTG	NP_001363835.1:p.Tyr198=
NM_001376907.1:c.482_487delinsACCCTG	NP_001363836.1:p.Tyr161=
NM_001376908.1:c.593_598delinsACCCTG	NP_001363837.1:p.Tyr198=