Canonical Allele Identifier: CA1803211985
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93758513_93758514delinsAT , CM000670.2:g.93758513_93758514delinsAT GRCh38
NC_000008.10:g.94770741_94770742delinsAT , CM000670.1:g.94770741_94770742delinsAT GRCh37
NC_000008.9:g.94839917_94839918delinsAT NCBI36
NG_009190.1:g.8670_8671delinsAT , LRG_688:g.8670_8671delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.343_344delinsAT ENSP00000314488.4:p.Ile115=
ENST00000409623.8:c.343_344delinsAT ENSP00000386966.4:p.Ile115=
ENST00000452276.6:c.343_344delinsAT ENSP00000388671.2:p.Ile115=
ENST00000453906.6:c.343_344delinsAT ENSP00000403035.2:p.Ile115=
ENST00000520680.2:c.343_344delinsAT ENSP00000428785.2:p.Ile115=
ENST00000521065.2:c.343_344delinsAT ENSP00000427947.2:p.Ile115=
ENST00000521517.6:c.343_344delinsAT ENSP00000430740.2:p.Ile115=
ENST00000681998.1:c.343_344delinsAT ENSP00000506773.1:p.Ile115=
ENST00000682036.1:c.343_344delinsAT ENSP00000508390.1:p.Ile115=
ENST00000682577.1:c.343_344delinsAT ENSP00000506963.1:p.Ile115=
ENST00000682624.1:c.254_255delinsAT ENSP00000508343.1:p.His85=
ENST00000682700.1:c.343_344delinsAT ENSP00000507627.1:p.Ile115=
ENST00000682804.1:n.236_237delinsAT
ENST00000682837.1:c.343_344delinsAT ENSP00000507920.1:p.Ile115=
ENST00000682935.1:n.343_344delinsAT
ENST00000682984.1:c.312+2647_312+2648delinsAT ENSP00000507209.1:n.312+2647_312+2648delinsAT
ENST00000683078.1:c.343_344delinsAT ENSP00000506796.1:p.Ile115=
ENST00000683223.1:c.254_255delinsAT ENSP00000507685.1:p.His85=
ENST00000683238.1:n.164_165delinsAT
ENST00000683249.1:n.364_365delinsAT
ENST00000683336.1:c.343_344delinsAT ENSP00000507695.1:p.Ile115=
ENST00000683362.1:c.312+2647_312+2648delinsAT ENSP00000506985.1:n.312+2647_312+2648delinsAT
ENST00000683850.1:n.266_267delinsAT
ENST00000683919.1:c.343_344delinsAT ENSP00000507617.1:p.Ile115=
ENST00000683953.1:c.254_255delinsAT ENSP00000508375.1:p.His85=
ENST00000684023.1:c.343_344delinsAT ENSP00000507461.1:p.Ile115=
ENST00000684064.1:c.34_35delinsAT ENSP00000508192.1:p.Ile12=
ENST00000684089.1:n.333_334delinsAT
ENST00000684149.1:c.343_344delinsAT ENSP00000507943.1:p.Ile115=
ENST00000684416.1:n.168_169delinsAT
ENST00000684540.1:c.343_344delinsAT ENSP00000507987.1:p.Ile115=
ENST00000684733.1:n.278_279delinsAT
ENST00000453321.8:c.343_344delinsAT MANE Select ENSP00000389998.3:p.Ile115=
ENST00000323130.7:c.313_314delinsAT ENSP00000314488.3:p.Ile105=
ENST00000409623.7:c.-35_-34delinsAT ENSP00000386966.3:n.-35_-34delinsAT
ENST00000452276.5:c.34_35delinsAT ENSP00000388671.1:p.Ile12=
ENST00000453321.7:c.343_344delinsAT ENSP00000389998.3:p.Ile115=
ENST00000453906.5:c.343_344delinsAT ENSP00000403035.1:p.Ile115=
ENST00000455946.5:c.343_344delinsAT ENSP00000416339.1:p.Ile115=
ENST00000474944.5:n.363_364delinsAT
ENST00000475305.1:n.352_353delinsAT
ENST00000498673.5:c.-138_-137delinsAT ENSP00000430232.1:n.-138_-137delinsAT
ENST00000518319.5:c.-177_-176delinsAT ENSP00000430289.1:n.-177_-176delinsAT
ENST00000521065.1:c.249_250delinsAT
ENST00000521222.5:c.339_340delinsAT ENSP00000429925.1:p.Ala113=
ENST00000521517.5:c.335_336delinsAT
NM_001142301.1:c.-35_-34delinsAT , LRG_688t2:c.-35_-34delinsAT NP_001135773.1:n.-35_-34delinsAT
NM_153704.5:c.343_344delinsAT , LRG_688t1:c.343_344delinsAT NP_714915.3:p.Ile115=
NR_024522.1:n.414_415delinsAT
XM_006716686.2:c.40_41delinsAT XP_006716749.1:p.Ile14=
XM_011517363.1:c.343_344delinsAT XP_011515665.1:p.Ile115=
XR_428387.1:n.401_402delinsAT
XR_928360.1:n.401_402delinsAT
XR_928361.1:n.401_402delinsAT
XR_928362.1:n.401_402delinsAT
XM_006716686.4:c.40_41delinsAT XP_006716749.1:p.Ile14=
XM_011517363.3:c.343_344delinsAT XP_011515665.1:p.Ile115=
XM_024447326.1:c.-67_-66delinsAT XP_024303094.1:n.-67_-66delinsAT
XR_001745619.2:n.384_385delinsAT
XR_428387.2:n.384_385delinsAT
XR_928360.3:n.384_385delinsAT
XR_928362.3:n.384_385delinsAT
NM_153704.6:c.343_344delinsAT MANE Select NP_714915.3:p.Ile115=
NR_024522.2:n.364_365delinsAT