Canonical Allele Identifier: CA2781324130

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780824_93780825insGAC , CM000670.2:g.93780824_93780825insGAC	GRCh38
NC_000008.10:g.94793052_94793053insGAC , CM000670.1:g.94793052_94793053insGAC	GRCh37
NC_000008.9:g.94862228_94862229insGAC	NCBI36
NG_009190.1:g.30981_30982insGAC , LRG_688:g.30981_30982insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.870-50_870-49insGAC	ENSP00000314488.4:n.870-50_870-49insGAC
ENST00000409623.8:c.870-50_870-49insGAC	ENSP00000386966.4:n.870-50_870-49insGAC
ENST00000452276.6:c.870-50_870-49insGAC	ENSP00000388671.2:n.870-50_870-49insGAC
ENST00000453906.6:c.407-5399_407-5398insGAC	ENSP00000403035.2:n.407-5399_407-5398insGAC
ENST00000520680.2:c.870-50_870-49insGAC	ENSP00000428785.2:n.870-50_870-49insGAC
ENST00000521065.2:c.*587-50_*587-49insGAC	ENSP00000427947.2:n.*587-50_*587-49insGAC
ENST00000521517.6:c.870-50_870-49insGAC	ENSP00000430740.2:n.870-50_870-49insGAC
ENST00000681998.1:c.799+77_799+78insGAC	ENSP00000506773.1:n.799+77_799+78insGAC
ENST00000682036.1:c.407-5399_407-5398insGAC	ENSP00000508390.1:n.407-5399_407-5398insGAC
ENST00000682577.1:c.800-50_800-49insGAC	ENSP00000506963.1:n.800-50_800-49insGAC
ENST00000682624.1:c.*444-50_*444-49insGAC	ENSP00000508343.1:n.*444-50_*444-49insGAC
ENST00000682700.1:c.870-50_870-49insGAC	ENSP00000507627.1:n.870-50_870-49insGAC
ENST00000682744.1:n.408-50_408-49insGAC
ENST00000682804.1:n.693-50_693-49insGAC
ENST00000682837.1:c.624+77_624+78insGAC	ENSP00000507920.1:n.624+77_624+78insGAC
ENST00000682935.1:n.2430-50_2430-49insGAC
ENST00000682984.1:c.531-50_531-49insGAC	ENSP00000507209.1:n.531-50_531-49insGAC
ENST00000683078.1:c.625-50_625-49insGAC	ENSP00000506796.1:n.625-50_625-49insGAC
ENST00000683223.1:c.710+77_710+78insGAC	ENSP00000507685.1:n.710+77_710+78insGAC
ENST00000683238.1:n.2251-50_2251-49insGAC
ENST00000683249.1:n.2451-34_2451-33insGAC
ENST00000683336.1:c.799+77_799+78insGAC	ENSP00000507695.1:n.799+77_799+78insGAC
ENST00000683362.1:c.531-50_531-49insGAC	ENSP00000506985.1:n.531-50_531-49insGAC
ENST00000683850.1:n.793-50_793-49insGAC
ENST00000683919.1:c.800-50_800-49insGAC	ENSP00000507617.1:n.800-50_800-49insGAC
ENST00000683953.1:c.781-50_781-49insGAC	ENSP00000508375.1:n.781-50_781-49insGAC
ENST00000684023.1:c.1004-50_1004-49insGAC	ENSP00000507461.1:n.1004-50_1004-49insGAC
ENST00000684064.1:c.561-50_561-49insGAC	ENSP00000508192.1:n.561-50_561-49insGAC
ENST00000684089.1:n.2420-50_2420-49insGAC
ENST00000684149.1:c.*206-50_*206-49insGAC	ENSP00000507943.1:n.*206-50_*206-49insGAC
ENST00000684416.1:n.829-50_829-49insGAC
ENST00000684540.1:c.800-50_800-49insGAC	ENSP00000507987.1:n.800-50_800-49insGAC
ENST00000453321.8:c.870-50_870-49insGAC MANE Select	ENSP00000389998.3:n.870-50_870-49insGAC
ENST00000323130.7:c.840-50_840-49insGAC	ENSP00000314488.3:n.840-50_840-49insGAC
ENST00000409623.7:c.627-50_627-49insGAC	ENSP00000386966.3:n.627-50_627-49insGAC
ENST00000425545.2:n.317-50_317-49insGAC
ENST00000452276.5:c.561-50_561-49insGAC	ENSP00000388671.1:n.561-50_561-49insGAC
ENST00000453321.7:c.870-50_870-49insGAC	ENSP00000389998.3:n.870-50_870-49insGAC
ENST00000453906.5:c.407-5399_407-5398insGAC	ENSP00000403035.1:n.407-5399_407-5398insGAC
ENST00000474944.5:n.427-5399_427-5398insGAC
ENST00000496213.5:n.335-50_335-49insGAC
NM_001142301.1:c.627-50_627-49insGAC , LRG_688t2:c.627-50_627-49insGAC	NP_001135773.1:n.627-50_627-49insGAC
NM_153704.5:c.870-50_870-49insGAC , LRG_688t1:c.870-50_870-49insGAC	NP_714915.3:n.870-50_870-49insGAC
NR_024522.1:n.941-50_941-49insGAC
XM_006716686.2:c.567-50_567-49insGAC	XP_006716749.1:n.567-50_567-49insGAC
XM_006716687.2:c.270-50_270-49insGAC	XP_006716750.1:n.270-50_270-49insGAC
XM_011517363.1:c.407-5399_407-5398insGAC	XP_011515665.1:n.407-5399_407-5398insGAC
XR_428387.1:n.928-50_928-49insGAC
XR_928360.1:n.928-50_928-49insGAC
XR_928361.1:n.928-50_928-49insGAC
XR_928362.1:n.928-50_928-49insGAC
XM_006716686.4:c.567-50_567-49insGAC	XP_006716749.1:n.567-50_567-49insGAC
XM_011517363.3:c.407-5399_407-5398insGAC	XP_011515665.1:n.407-5399_407-5398insGAC
XM_024447326.1:c.216-50_216-49insGAC	XP_024303094.1:n.216-50_216-49insGAC
XR_001745619.2:n.911-50_911-49insGAC
XR_428387.2:n.911-50_911-49insGAC
XR_928360.3:n.911-50_911-49insGAC
XR_928362.3:n.911-50_911-49insGAC
NM_153704.6:c.870-50_870-49insGAC MANE Select	NP_714915.3:n.870-50_870-49insGAC
NR_024522.2:n.891-50_891-49insGAC