Canonical Allele Identifier: CA1803212000

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758551_93758553delinsTCA , CM000670.2:g.93758551_93758553delinsTCA	GRCh38
NC_000008.10:g.94770779_94770781delinsTCA , CM000670.1:g.94770779_94770781delinsTCA	GRCh37
NC_000008.9:g.94839955_94839957delinsTCA	NCBI36
NG_009190.1:g.8708_8710delinsTCA , LRG_688:g.8708_8710delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.381_383delinsTCA	ENSP00000314488.4:p.Cys127=
ENST00000409623.8:c.381_383delinsTCA	ENSP00000386966.4:p.Cys127=
ENST00000452276.6:c.381_383delinsTCA	ENSP00000388671.2:p.Cys127=
ENST00000453906.6:c.381_383delinsTCA	ENSP00000403035.2:p.Cys127=
ENST00000520680.2:c.381_383delinsTCA	ENSP00000428785.2:p.Cys127=
ENST00000521065.2:c.381_383delinsTCA	ENSP00000427947.2:p.Cys127=
ENST00000521517.6:c.381_383delinsTCA	ENSP00000430740.2:p.Cys127=
ENST00000681998.1:c.381_383delinsTCA	ENSP00000506773.1:p.Cys127=
ENST00000682036.1:c.381_383delinsTCA	ENSP00000508390.1:p.Cys127=
ENST00000682577.1:c.381_383delinsTCA	ENSP00000506963.1:p.Cys127=
ENST00000682624.1:c.*25_*27delinsTCA	ENSP00000508343.1:n.*25_*27delinsTCA
ENST00000682700.1:c.381_383delinsTCA	ENSP00000507627.1:p.Cys127=
ENST00000682804.1:n.274_276delinsTCA
ENST00000682837.1:c.381_383delinsTCA	ENSP00000507920.1:p.Cys127=
ENST00000682935.1:n.381_383delinsTCA
ENST00000682984.1:c.312+2685_312+2687delinsTCA	ENSP00000507209.1:n.312+2685_312+2687delinsTCA
ENST00000683078.1:c.381_383delinsTCA	ENSP00000506796.1:p.Cys127=
ENST00000683223.1:c.292_294delinsTCA	ENSP00000507685.1:n.292_294delinsTCA
ENST00000683238.1:n.202_204delinsTCA
ENST00000683249.1:n.402_404delinsTCA
ENST00000683336.1:c.381_383delinsTCA	ENSP00000507695.1:p.Cys127=
ENST00000683362.1:c.312+2685_312+2687delinsTCA	ENSP00000506985.1:n.312+2685_312+2687delinsTCA
ENST00000683850.1:n.304_306delinsTCA
ENST00000683919.1:c.381_383delinsTCA	ENSP00000507617.1:p.Cys127=
ENST00000683953.1:c.292_294delinsTCA	ENSP00000508375.1:n.292_294delinsTCA
ENST00000684023.1:c.381_383delinsTCA	ENSP00000507461.1:p.Cys127=
ENST00000684064.1:c.72_74delinsTCA	ENSP00000508192.1:p.Cys24=
ENST00000684089.1:n.371_373delinsTCA
ENST00000684149.1:c.381_383delinsTCA	ENSP00000507943.1:p.Cys127=
ENST00000684416.1:n.206_208delinsTCA
ENST00000684540.1:c.381_383delinsTCA	ENSP00000507987.1:p.Cys127=
ENST00000684733.1:n.316_318delinsTCA
ENST00000453321.8:c.381_383delinsTCA MANE Select	ENSP00000389998.3:p.Cys127=
ENST00000323130.7:c.351_353delinsTCA	ENSP00000314488.3:p.Cys117=
ENST00000409623.7:c.4_6delinsTCA	ENSP00000386966.3:p.Ser2=
ENST00000452276.5:c.72_74delinsTCA	ENSP00000388671.1:p.Cys24=
ENST00000453321.7:c.381_383delinsTCA	ENSP00000389998.3:p.Cys127=
ENST00000453906.5:c.381_383delinsTCA	ENSP00000403035.1:p.Cys127=
ENST00000455946.5:c.381_383delinsTCA	ENSP00000416339.1:p.Cys127=
ENST00000474944.5:n.401_403delinsTCA
ENST00000475305.1:n.390_392delinsTCA
ENST00000498673.5:c.-100_-98delinsTCA	ENSP00000430232.1:n.-100_-98delinsTCA
ENST00000518319.5:c.-139_-137delinsTCA	ENSP00000430289.1:n.-139_-137delinsTCA
ENST00000521065.1:c.287_289delinsTCA
ENST00000521222.5:c.*17_*19delinsTCA	ENSP00000429925.1:n.*17_*19delinsTCA
ENST00000521517.5:c.373_375delinsTCA
NM_001142301.1:c.4_6delinsTCA , LRG_688t2:c.4_6delinsTCA	NP_001135773.1:p.Ser2=
NM_153704.5:c.381_383delinsTCA , LRG_688t1:c.381_383delinsTCA	NP_714915.3:p.Cys127=
NR_024522.1:n.452_454delinsTCA
XM_006716686.2:c.78_80delinsTCA	XP_006716749.1:p.Cys26=
XM_011517363.1:c.381_383delinsTCA	XP_011515665.1:p.Cys127=
XR_428387.1:n.439_441delinsTCA
XR_928360.1:n.439_441delinsTCA
XR_928361.1:n.439_441delinsTCA
XR_928362.1:n.439_441delinsTCA
XM_006716686.4:c.78_80delinsTCA	XP_006716749.1:p.Cys26=
XM_011517363.3:c.381_383delinsTCA	XP_011515665.1:p.Cys127=
XM_024447326.1:c.-29_-27delinsTCA	XP_024303094.1:n.-29_-27delinsTCA
XR_001745619.2:n.422_424delinsTCA
XR_428387.2:n.422_424delinsTCA
XR_928360.3:n.422_424delinsTCA
XR_928362.3:n.422_424delinsTCA
NM_153704.6:c.381_383delinsTCA MANE Select	NP_714915.3:p.Cys127=
NR_024522.2:n.402_404delinsTCA