Canonical Allele Identifier: CA2579205458
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93758574del , CM000670.2:g.93758574del GRCh38
NC_000008.10:g.94770802del , CM000670.1:g.94770802del GRCh37
NC_000008.9:g.94839978del NCBI36
NG_009190.1:g.8731del , LRG_688:g.8731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.404del ENSP00000314488.4:p.Leu135Ter
ENST00000409623.8:c.404del ENSP00000386966.4:p.Leu135Ter
ENST00000452276.6:c.404del ENSP00000388671.2:p.Leu135Ter
ENST00000453906.6:c.404del ENSP00000403035.2:p.Leu135Ter
ENST00000520680.2:c.404del ENSP00000428785.2:p.Leu135Ter
ENST00000521065.2:c.404del ENSP00000427947.2:p.Leu135Ter
ENST00000521517.6:c.404del ENSP00000430740.2:p.Leu135Ter
ENST00000681998.1:c.404del ENSP00000506773.1:p.Leu135Ter
ENST00000682036.1:c.404del ENSP00000508390.1:p.Leu135Ter
ENST00000682577.1:c.404del ENSP00000506963.1:p.Leu135Ter
ENST00000682624.1:c.*48del ENSP00000508343.1:n.*48del
ENST00000682700.1:c.404del ENSP00000507627.1:p.Leu135Ter
ENST00000682804.1:n.297del
ENST00000682837.1:c.404del ENSP00000507920.1:p.Leu135Ter
ENST00000682935.1:n.404del
ENST00000682984.1:c.312+2708del ENSP00000507209.1:n.312+2708del
ENST00000683078.1:c.404del ENSP00000506796.1:p.Leu135Ter
ENST00000683223.1:c.315del ENSP00000507685.1:n.315del
ENST00000683238.1:n.225del
ENST00000683249.1:n.425del
ENST00000683336.1:c.404del ENSP00000507695.1:p.Leu135Ter
ENST00000683362.1:c.312+2708del ENSP00000506985.1:n.312+2708del
ENST00000683850.1:n.327del
ENST00000683919.1:c.404del ENSP00000507617.1:p.Leu135Ter
ENST00000683953.1:c.315del ENSP00000508375.1:n.315del
ENST00000684023.1:c.404del ENSP00000507461.1:p.Leu135Ter
ENST00000684064.1:c.95del ENSP00000508192.1:p.Leu32Ter
ENST00000684089.1:n.394del
ENST00000684149.1:c.404del ENSP00000507943.1:p.Leu135Ter
ENST00000684416.1:n.229del
ENST00000684540.1:c.404del ENSP00000507987.1:p.Leu135Ter
ENST00000684733.1:n.339del
ENST00000453321.8:c.404del MANE Select ENSP00000389998.3:p.Leu135Ter
ENST00000323130.7:c.374del ENSP00000314488.3:p.Leu125Ter
ENST00000409623.7:c.27del ENSP00000386966.3:p.Phe9LeufsTer5
ENST00000452276.5:c.95del ENSP00000388671.1:p.Leu32Ter
ENST00000453321.7:c.404del ENSP00000389998.3:p.Leu135Ter
ENST00000453906.5:c.404del ENSP00000403035.1:p.Leu135Ter
ENST00000455946.5:c.404del ENSP00000416339.1:p.Leu135Ter
ENST00000474944.5:n.424del
ENST00000475305.1:n.413del
ENST00000498673.5:c.-77del ENSP00000430232.1:n.-77del
ENST00000518319.5:c.-116del ENSP00000430289.1:n.-116del
ENST00000521065.1:c.310del
ENST00000521222.5:c.*40del ENSP00000429925.1:n.*40del
ENST00000521517.5:c.396del
NM_001142301.1:c.27del , LRG_688t2:c.27del NP_001135773.1:p.Phe9LeufsTer5
NM_153704.5:c.404del , LRG_688t1:c.404del NP_714915.3:p.Leu135Ter
NR_024522.1:n.475del
XM_006716686.2:c.101del XP_006716749.1:p.Leu34Ter
XM_011517363.1:c.404del XP_011515665.1:p.Leu135Ter
XR_428387.1:n.462del
XR_928360.1:n.462del
XR_928361.1:n.462del
XR_928362.1:n.462del
XM_006716686.4:c.101del XP_006716749.1:p.Leu34Ter
XM_011517363.3:c.404del XP_011515665.1:p.Leu135Ter
XM_024447326.1:c.-6del XP_024303094.1:n.-6del
XR_001745619.2:n.445del
XR_428387.2:n.445del
XR_928360.3:n.445del
XR_928362.3:n.445del
NM_153704.6:c.404del MANE Select NP_714915.3:p.Leu135Ter
NR_024522.2:n.425del