Canonical Allele Identifier: CA1803212002
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93758554_93758555delinsCT , CM000670.2:g.93758554_93758555delinsCT GRCh38
NC_000008.10:g.94770782_94770783delinsCT , CM000670.1:g.94770782_94770783delinsCT GRCh37
NC_000008.9:g.94839958_94839959delinsCT NCBI36
NG_009190.1:g.8711_8712delinsCT , LRG_688:g.8711_8712delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.384_385delinsCT ENSP00000314488.4:p.His128=
ENST00000409623.8:c.384_385delinsCT ENSP00000386966.4:p.His128=
ENST00000452276.6:c.384_385delinsCT ENSP00000388671.2:p.His128=
ENST00000453906.6:c.384_385delinsCT ENSP00000403035.2:p.His128=
ENST00000520680.2:c.384_385delinsCT ENSP00000428785.2:p.His128=
ENST00000521065.2:c.384_385delinsCT ENSP00000427947.2:p.His128=
ENST00000521517.6:c.384_385delinsCT ENSP00000430740.2:p.His128=
ENST00000681998.1:c.384_385delinsCT ENSP00000506773.1:p.His128=
ENST00000682036.1:c.384_385delinsCT ENSP00000508390.1:p.His128=
ENST00000682577.1:c.384_385delinsCT ENSP00000506963.1:p.His128=
ENST00000682624.1:c.*28_*29delinsCT ENSP00000508343.1:n.*28_*29delinsCT
ENST00000682700.1:c.384_385delinsCT ENSP00000507627.1:p.His128=
ENST00000682804.1:n.277_278delinsCT
ENST00000682837.1:c.384_385delinsCT ENSP00000507920.1:p.His128=
ENST00000682935.1:n.384_385delinsCT
ENST00000682984.1:c.312+2688_312+2689delinsCT ENSP00000507209.1:n.312+2688_312+2689delinsCT
ENST00000683078.1:c.384_385delinsCT ENSP00000506796.1:p.His128=
ENST00000683223.1:c.295_296delinsCT ENSP00000507685.1:n.295_296delinsCT
ENST00000683238.1:n.205_206delinsCT
ENST00000683249.1:n.405_406delinsCT
ENST00000683336.1:c.384_385delinsCT ENSP00000507695.1:p.His128=
ENST00000683362.1:c.312+2688_312+2689delinsCT ENSP00000506985.1:n.312+2688_312+2689delinsCT
ENST00000683850.1:n.307_308delinsCT
ENST00000683919.1:c.384_385delinsCT ENSP00000507617.1:p.His128=
ENST00000683953.1:c.295_296delinsCT ENSP00000508375.1:n.295_296delinsCT
ENST00000684023.1:c.384_385delinsCT ENSP00000507461.1:p.His128=
ENST00000684064.1:c.75_76delinsCT ENSP00000508192.1:p.His25=
ENST00000684089.1:n.374_375delinsCT
ENST00000684149.1:c.384_385delinsCT ENSP00000507943.1:p.His128=
ENST00000684416.1:n.209_210delinsCT
ENST00000684540.1:c.384_385delinsCT ENSP00000507987.1:p.His128=
ENST00000684733.1:n.319_320delinsCT
ENST00000453321.8:c.384_385delinsCT MANE Select ENSP00000389998.3:p.His128=
ENST00000323130.7:c.354_355delinsCT ENSP00000314488.3:p.His118=
ENST00000409623.7:c.7_8delinsCT ENSP00000386966.3:p.Leu3=
ENST00000452276.5:c.75_76delinsCT ENSP00000388671.1:p.His25=
ENST00000453321.7:c.384_385delinsCT ENSP00000389998.3:p.His128=
ENST00000453906.5:c.384_385delinsCT ENSP00000403035.1:p.His128=
ENST00000455946.5:c.384_385delinsCT ENSP00000416339.1:p.His128=
ENST00000474944.5:n.404_405delinsCT
ENST00000475305.1:n.393_394delinsCT
ENST00000498673.5:c.-97_-96delinsCT ENSP00000430232.1:n.-97_-96delinsCT
ENST00000518319.5:c.-136_-135delinsCT ENSP00000430289.1:n.-136_-135delinsCT
ENST00000521065.1:c.290_291delinsCT
ENST00000521222.5:c.*20_*21delinsCT ENSP00000429925.1:n.*20_*21delinsCT
ENST00000521517.5:c.376_377delinsCT
NM_001142301.1:c.7_8delinsCT , LRG_688t2:c.7_8delinsCT NP_001135773.1:p.Leu3=
NM_153704.5:c.384_385delinsCT , LRG_688t1:c.384_385delinsCT NP_714915.3:p.His128=
NR_024522.1:n.455_456delinsCT
XM_006716686.2:c.81_82delinsCT XP_006716749.1:p.His27=
XM_011517363.1:c.384_385delinsCT XP_011515665.1:p.His128=
XR_428387.1:n.442_443delinsCT
XR_928360.1:n.442_443delinsCT
XR_928361.1:n.442_443delinsCT
XR_928362.1:n.442_443delinsCT
XM_006716686.4:c.81_82delinsCT XP_006716749.1:p.His27=
XM_011517363.3:c.384_385delinsCT XP_011515665.1:p.His128=
XM_024447326.1:c.-26_-25delinsCT XP_024303094.1:n.-26_-25delinsCT
XR_001745619.2:n.425_426delinsCT
XR_428387.2:n.425_426delinsCT
XR_928360.3:n.425_426delinsCT
XR_928362.3:n.425_426delinsCT
NM_153704.6:c.384_385delinsCT MANE Select NP_714915.3:p.His128=
NR_024522.2:n.405_406delinsCT