Canonical Allele Identifier: CA2548968278

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780797_93780798insCA , CM000670.2:g.93780797_93780798insCA	GRCh38
NC_000008.10:g.94793025_94793026insCA , CM000670.1:g.94793025_94793026insCA	GRCh37
NC_000008.9:g.94862201_94862202insCA	NCBI36
NG_009190.1:g.30954_30955insCA , LRG_688:g.30954_30955insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+50_869+51insCA	ENSP00000314488.4:n.869+50_869+51insCA
ENST00000409623.8:c.869+50_869+51insCA	ENSP00000386966.4:n.869+50_869+51insCA
ENST00000452276.6:c.869+50_869+51insCA	ENSP00000388671.2:n.869+50_869+51insCA
ENST00000453906.6:c.407-5426_407-5425insCA	ENSP00000403035.2:n.407-5426_407-5425insCA
ENST00000520680.2:c.869+50_869+51insCA	ENSP00000428785.2:n.869+50_869+51insCA
ENST00000521065.2:c.*586+50_*586+51insCA	ENSP00000427947.2:n.*586+50_*586+51insCA
ENST00000521517.6:c.869+50_869+51insCA	ENSP00000430740.2:n.869+50_869+51insCA
ENST00000681998.1:c.799+50_799+51insCA	ENSP00000506773.1:n.799+50_799+51insCA
ENST00000682036.1:c.407-5426_407-5425insCA	ENSP00000508390.1:n.407-5426_407-5425insCA
ENST00000682577.1:c.799+50_799+51insCA	ENSP00000506963.1:n.799+50_799+51insCA
ENST00000682624.1:c.*443+50_*443+51insCA	ENSP00000508343.1:n.*443+50_*443+51insCA
ENST00000682700.1:c.869+50_869+51insCA	ENSP00000507627.1:n.869+50_869+51insCA
ENST00000682744.1:n.407+50_407+51insCA
ENST00000682804.1:n.692+50_692+51insCA
ENST00000682837.1:c.624+50_624+51insCA	ENSP00000507920.1:n.624+50_624+51insCA
ENST00000682935.1:n.2429+50_2429+51insCA
ENST00000682984.1:c.530+50_530+51insCA	ENSP00000507209.1:n.530+50_530+51insCA
ENST00000683078.1:c.624+50_624+51insCA	ENSP00000506796.1:n.624+50_624+51insCA
ENST00000683223.1:c.710+50_710+51insCA	ENSP00000507685.1:n.710+50_710+51insCA
ENST00000683238.1:n.2250+50_2250+51insCA
ENST00000683249.1:n.2450+50_2450+51insCA
ENST00000683336.1:c.799+50_799+51insCA	ENSP00000507695.1:n.799+50_799+51insCA
ENST00000683362.1:c.530+50_530+51insCA	ENSP00000506985.1:n.530+50_530+51insCA
ENST00000683850.1:n.792+50_792+51insCA
ENST00000683919.1:c.799+50_799+51insCA	ENSP00000507617.1:n.799+50_799+51insCA
ENST00000683953.1:c.780+50_780+51insCA	ENSP00000508375.1:n.780+50_780+51insCA
ENST00000684023.1:c.1003+50_1003+51insCA	ENSP00000507461.1:n.1003+50_1003+51insCA
ENST00000684064.1:c.560+50_560+51insCA	ENSP00000508192.1:n.560+50_560+51insCA
ENST00000684089.1:n.2419+50_2419+51insCA
ENST00000684149.1:c.*205+50_*205+51insCA	ENSP00000507943.1:n.*205+50_*205+51insCA
ENST00000684416.1:n.828+50_828+51insCA
ENST00000684540.1:c.799+50_799+51insCA	ENSP00000507987.1:n.799+50_799+51insCA
ENST00000453321.8:c.869+50_869+51insCA MANE Select	ENSP00000389998.3:n.869+50_869+51insCA
ENST00000323130.7:c.839+50_839+51insCA	ENSP00000314488.3:n.839+50_839+51insCA
ENST00000409623.7:c.626+50_626+51insCA	ENSP00000386966.3:n.626+50_626+51insCA
ENST00000425545.2:n.316+50_316+51insCA
ENST00000452276.5:c.560+50_560+51insCA	ENSP00000388671.1:n.560+50_560+51insCA
ENST00000453321.7:c.869+50_869+51insCA	ENSP00000389998.3:n.869+50_869+51insCA
ENST00000453906.5:c.407-5426_407-5425insCA	ENSP00000403035.1:n.407-5426_407-5425insCA
ENST00000474944.5:n.427-5426_427-5425insCA
ENST00000496213.5:n.334+50_334+51insCA
NM_001142301.1:c.626+50_626+51insCA , LRG_688t2:c.626+50_626+51insCA	NP_001135773.1:n.626+50_626+51insCA
NM_153704.5:c.869+50_869+51insCA , LRG_688t1:c.869+50_869+51insCA	NP_714915.3:n.869+50_869+51insCA
NR_024522.1:n.940+50_940+51insCA
XM_006716686.2:c.566+50_566+51insCA	XP_006716749.1:n.566+50_566+51insCA
XM_006716687.2:c.269+50_269+51insCA	XP_006716750.1:n.269+50_269+51insCA
XM_011517363.1:c.407-5426_407-5425insCA	XP_011515665.1:n.407-5426_407-5425insCA
XR_428387.1:n.927+50_927+51insCA
XR_928360.1:n.927+50_927+51insCA
XR_928361.1:n.927+50_927+51insCA
XR_928362.1:n.927+50_927+51insCA
XM_006716686.4:c.566+50_566+51insCA	XP_006716749.1:n.566+50_566+51insCA
XM_011517363.3:c.407-5426_407-5425insCA	XP_011515665.1:n.407-5426_407-5425insCA
XM_024447326.1:c.215+50_215+51insCA	XP_024303094.1:n.215+50_215+51insCA
XR_001745619.2:n.910+50_910+51insCA
XR_428387.2:n.910+50_910+51insCA
XR_928360.3:n.910+50_910+51insCA
XR_928362.3:n.910+50_910+51insCA
NM_153704.6:c.869+50_869+51insCA MANE Select	NP_714915.3:n.869+50_869+51insCA
NR_024522.2:n.890+50_890+51insCA