Canonical Allele Identifier: CA2781324104
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780783_93780784insACA , CM000670.2:g.93780783_93780784insACA GRCh38
NC_000008.10:g.94793011_94793012insACA , CM000670.1:g.94793011_94793012insACA GRCh37
NC_000008.9:g.94862187_94862188insACA NCBI36
NG_009190.1:g.30940_30941insACA , LRG_688:g.30940_30941insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.869+36_869+37insACA ENSP00000314488.4:n.869+36_869+37insACA
ENST00000409623.8:c.869+36_869+37insACA ENSP00000386966.4:n.869+36_869+37insACA
ENST00000452276.6:c.869+36_869+37insACA ENSP00000388671.2:n.869+36_869+37insACA
ENST00000453906.6:c.407-5440_407-5439insACA ENSP00000403035.2:n.407-5440_407-5439insACA
ENST00000520680.2:c.869+36_869+37insACA ENSP00000428785.2:n.869+36_869+37insACA
ENST00000521065.2:c.*586+36_*586+37insACA ENSP00000427947.2:n.*586+36_*586+37insACA
ENST00000521517.6:c.869+36_869+37insACA ENSP00000430740.2:n.869+36_869+37insACA
ENST00000681998.1:c.799+36_799+37insACA ENSP00000506773.1:n.799+36_799+37insACA
ENST00000682036.1:c.407-5440_407-5439insACA ENSP00000508390.1:n.407-5440_407-5439insACA
ENST00000682577.1:c.799+36_799+37insACA ENSP00000506963.1:n.799+36_799+37insACA
ENST00000682624.1:c.*443+36_*443+37insACA ENSP00000508343.1:n.*443+36_*443+37insACA
ENST00000682700.1:c.869+36_869+37insACA ENSP00000507627.1:n.869+36_869+37insACA
ENST00000682744.1:n.407+36_407+37insACA
ENST00000682804.1:n.692+36_692+37insACA
ENST00000682837.1:c.624+36_624+37insACA ENSP00000507920.1:n.624+36_624+37insACA
ENST00000682935.1:n.2429+36_2429+37insACA
ENST00000682984.1:c.530+36_530+37insACA ENSP00000507209.1:n.530+36_530+37insACA
ENST00000683078.1:c.624+36_624+37insACA ENSP00000506796.1:n.624+36_624+37insACA
ENST00000683223.1:c.710+36_710+37insACA ENSP00000507685.1:n.710+36_710+37insACA
ENST00000683238.1:n.2250+36_2250+37insACA
ENST00000683249.1:n.2450+36_2450+37insACA
ENST00000683336.1:c.799+36_799+37insACA ENSP00000507695.1:n.799+36_799+37insACA
ENST00000683362.1:c.530+36_530+37insACA ENSP00000506985.1:n.530+36_530+37insACA
ENST00000683850.1:n.792+36_792+37insACA
ENST00000683919.1:c.799+36_799+37insACA ENSP00000507617.1:n.799+36_799+37insACA
ENST00000683953.1:c.780+36_780+37insACA ENSP00000508375.1:n.780+36_780+37insACA
ENST00000684023.1:c.1003+36_1003+37insACA ENSP00000507461.1:n.1003+36_1003+37insACA
ENST00000684064.1:c.560+36_560+37insACA ENSP00000508192.1:n.560+36_560+37insACA
ENST00000684089.1:n.2419+36_2419+37insACA
ENST00000684149.1:c.*205+36_*205+37insACA ENSP00000507943.1:n.*205+36_*205+37insACA
ENST00000684416.1:n.828+36_828+37insACA
ENST00000684540.1:c.799+36_799+37insACA ENSP00000507987.1:n.799+36_799+37insACA
ENST00000453321.8:c.869+36_869+37insACA MANE Select ENSP00000389998.3:n.869+36_869+37insACA
ENST00000323130.7:c.839+36_839+37insACA ENSP00000314488.3:n.839+36_839+37insACA
ENST00000409623.7:c.626+36_626+37insACA ENSP00000386966.3:n.626+36_626+37insACA
ENST00000425545.2:n.316+36_316+37insACA
ENST00000452276.5:c.560+36_560+37insACA ENSP00000388671.1:n.560+36_560+37insACA
ENST00000453321.7:c.869+36_869+37insACA ENSP00000389998.3:n.869+36_869+37insACA
ENST00000453906.5:c.407-5440_407-5439insACA ENSP00000403035.1:n.407-5440_407-5439insACA
ENST00000474944.5:n.427-5440_427-5439insACA
ENST00000496213.5:n.334+36_334+37insACA
NM_001142301.1:c.626+36_626+37insACA , LRG_688t2:c.626+36_626+37insACA NP_001135773.1:n.626+36_626+37insACA
NM_153704.5:c.869+36_869+37insACA , LRG_688t1:c.869+36_869+37insACA NP_714915.3:n.869+36_869+37insACA
NR_024522.1:n.940+36_940+37insACA
XM_006716686.2:c.566+36_566+37insACA XP_006716749.1:n.566+36_566+37insACA
XM_006716687.2:c.269+36_269+37insACA XP_006716750.1:n.269+36_269+37insACA
XM_011517363.1:c.407-5440_407-5439insACA XP_011515665.1:n.407-5440_407-5439insACA
XR_428387.1:n.927+36_927+37insACA
XR_928360.1:n.927+36_927+37insACA
XR_928361.1:n.927+36_927+37insACA
XR_928362.1:n.927+36_927+37insACA
XM_006716686.4:c.566+36_566+37insACA XP_006716749.1:n.566+36_566+37insACA
XM_011517363.3:c.407-5440_407-5439insACA XP_011515665.1:n.407-5440_407-5439insACA
XM_024447326.1:c.215+36_215+37insACA XP_024303094.1:n.215+36_215+37insACA
XR_001745619.2:n.910+36_910+37insACA
XR_428387.2:n.910+36_910+37insACA
XR_928360.3:n.910+36_910+37insACA
XR_928362.3:n.910+36_910+37insACA
NM_153704.6:c.869+36_869+37insACA MANE Select NP_714915.3:n.869+36_869+37insACA
NR_024522.2:n.890+36_890+37insACA