Canonical Allele Identifier: CA2781324118
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780808_93780809insCAG , CM000670.2:g.93780808_93780809insCAG GRCh38
NC_000008.10:g.94793036_94793037insCAG , CM000670.1:g.94793036_94793037insCAG GRCh37
NC_000008.9:g.94862212_94862213insCAG NCBI36
NG_009190.1:g.30965_30966insCAG , LRG_688:g.30965_30966insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.869+61_869+62insCAG ENSP00000314488.4:n.869+61_869+62insCAG
ENST00000409623.8:c.869+61_869+62insCAG ENSP00000386966.4:n.869+61_869+62insCAG
ENST00000452276.6:c.869+61_869+62insCAG ENSP00000388671.2:n.869+61_869+62insCAG
ENST00000453906.6:c.407-5415_407-5414insCAG ENSP00000403035.2:n.407-5415_407-5414insCAG
ENST00000520680.2:c.869+61_869+62insCAG ENSP00000428785.2:n.869+61_869+62insCAG
ENST00000521065.2:c.*586+61_*586+62insCAG ENSP00000427947.2:n.*586+61_*586+62insCAG
ENST00000521517.6:c.869+61_869+62insCAG ENSP00000430740.2:n.869+61_869+62insCAG
ENST00000681998.1:c.799+61_799+62insCAG ENSP00000506773.1:n.799+61_799+62insCAG
ENST00000682036.1:c.407-5415_407-5414insCAG ENSP00000508390.1:n.407-5415_407-5414insCAG
ENST00000682577.1:c.799+61_799+62insCAG ENSP00000506963.1:n.799+61_799+62insCAG
ENST00000682624.1:c.*443+61_*443+62insCAG ENSP00000508343.1:n.*443+61_*443+62insCAG
ENST00000682700.1:c.869+61_869+62insCAG ENSP00000507627.1:n.869+61_869+62insCAG
ENST00000682744.1:n.407+61_407+62insCAG
ENST00000682804.1:n.692+61_692+62insCAG
ENST00000682837.1:c.624+61_624+62insCAG ENSP00000507920.1:n.624+61_624+62insCAG
ENST00000682935.1:n.2429+61_2429+62insCAG
ENST00000682984.1:c.530+61_530+62insCAG ENSP00000507209.1:n.530+61_530+62insCAG
ENST00000683078.1:c.624+61_624+62insCAG ENSP00000506796.1:n.624+61_624+62insCAG
ENST00000683223.1:c.710+61_710+62insCAG ENSP00000507685.1:n.710+61_710+62insCAG
ENST00000683238.1:n.2250+61_2250+62insCAG
ENST00000683249.1:n.2451-50_2451-49insCAG
ENST00000683336.1:c.799+61_799+62insCAG ENSP00000507695.1:n.799+61_799+62insCAG
ENST00000683362.1:c.530+61_530+62insCAG ENSP00000506985.1:n.530+61_530+62insCAG
ENST00000683850.1:n.792+61_792+62insCAG
ENST00000683919.1:c.799+61_799+62insCAG ENSP00000507617.1:n.799+61_799+62insCAG
ENST00000683953.1:c.780+61_780+62insCAG ENSP00000508375.1:n.780+61_780+62insCAG
ENST00000684023.1:c.1003+61_1003+62insCAG ENSP00000507461.1:n.1003+61_1003+62insCAG
ENST00000684064.1:c.560+61_560+62insCAG ENSP00000508192.1:n.560+61_560+62insCAG
ENST00000684089.1:n.2419+61_2419+62insCAG
ENST00000684149.1:c.*205+61_*205+62insCAG ENSP00000507943.1:n.*205+61_*205+62insCAG
ENST00000684416.1:n.828+61_828+62insCAG
ENST00000684540.1:c.799+61_799+62insCAG ENSP00000507987.1:n.799+61_799+62insCAG
ENST00000453321.8:c.869+61_869+62insCAG MANE Select ENSP00000389998.3:n.869+61_869+62insCAG
ENST00000323130.7:c.839+61_839+62insCAG ENSP00000314488.3:n.839+61_839+62insCAG
ENST00000409623.7:c.626+61_626+62insCAG ENSP00000386966.3:n.626+61_626+62insCAG
ENST00000425545.2:n.316+61_316+62insCAG
ENST00000452276.5:c.560+61_560+62insCAG ENSP00000388671.1:n.560+61_560+62insCAG
ENST00000453321.7:c.869+61_869+62insCAG ENSP00000389998.3:n.869+61_869+62insCAG
ENST00000453906.5:c.407-5415_407-5414insCAG ENSP00000403035.1:n.407-5415_407-5414insCAG
ENST00000474944.5:n.427-5415_427-5414insCAG
ENST00000496213.5:n.334+61_334+62insCAG
NM_001142301.1:c.626+61_626+62insCAG , LRG_688t2:c.626+61_626+62insCAG NP_001135773.1:n.626+61_626+62insCAG
NM_153704.5:c.869+61_869+62insCAG , LRG_688t1:c.869+61_869+62insCAG NP_714915.3:n.869+61_869+62insCAG
NR_024522.1:n.940+61_940+62insCAG
XM_006716686.2:c.566+61_566+62insCAG XP_006716749.1:n.566+61_566+62insCAG
XM_006716687.2:c.269+61_269+62insCAG XP_006716750.1:n.269+61_269+62insCAG
XM_011517363.1:c.407-5415_407-5414insCAG XP_011515665.1:n.407-5415_407-5414insCAG
XR_428387.1:n.927+61_927+62insCAG
XR_928360.1:n.927+61_927+62insCAG
XR_928361.1:n.927+61_927+62insCAG
XR_928362.1:n.927+61_927+62insCAG
XM_006716686.4:c.566+61_566+62insCAG XP_006716749.1:n.566+61_566+62insCAG
XM_011517363.3:c.407-5415_407-5414insCAG XP_011515665.1:n.407-5415_407-5414insCAG
XM_024447326.1:c.215+61_215+62insCAG XP_024303094.1:n.215+61_215+62insCAG
XR_001745619.2:n.910+61_910+62insCAG
XR_428387.2:n.910+61_910+62insCAG
XR_928360.3:n.910+61_910+62insCAG
XR_928362.3:n.910+61_910+62insCAG
NM_153704.6:c.869+61_869+62insCAG MANE Select NP_714915.3:n.869+61_869+62insCAG
NR_024522.2:n.890+61_890+62insCAG