Canonical Allele Identifier: CA2781324137
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780845_93780846insAC , CM000670.2:g.93780845_93780846insAC GRCh38
NC_000008.10:g.94793073_94793074insAC , CM000670.1:g.94793073_94793074insAC GRCh37
NC_000008.9:g.94862249_94862250insAC NCBI36
NG_009190.1:g.31002_31003insAC , LRG_688:g.31002_31003insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.870-29_870-28insAC ENSP00000314488.4:n.870-29_870-28insAC
ENST00000409623.8:c.870-29_870-28insAC ENSP00000386966.4:n.870-29_870-28insAC
ENST00000452276.6:c.870-29_870-28insAC ENSP00000388671.2:n.870-29_870-28insAC
ENST00000453906.6:c.407-5378_407-5377insAC ENSP00000403035.2:n.407-5378_407-5377insAC
ENST00000520680.2:c.870-29_870-28insAC ENSP00000428785.2:n.870-29_870-28insAC
ENST00000521065.2:c.*587-29_*587-28insAC ENSP00000427947.2:n.*587-29_*587-28insAC
ENST00000521517.6:c.870-29_870-28insAC ENSP00000430740.2:n.870-29_870-28insAC
ENST00000681998.1:c.799+98_799+99insAC ENSP00000506773.1:n.799+98_799+99insAC
ENST00000682036.1:c.407-5378_407-5377insAC ENSP00000508390.1:n.407-5378_407-5377insAC
ENST00000682577.1:c.800-29_800-28insAC ENSP00000506963.1:n.800-29_800-28insAC
ENST00000682624.1:c.*444-29_*444-28insAC ENSP00000508343.1:n.*444-29_*444-28insAC
ENST00000682700.1:c.870-29_870-28insAC ENSP00000507627.1:n.870-29_870-28insAC
ENST00000682744.1:n.408-29_408-28insAC
ENST00000682804.1:n.693-29_693-28insAC
ENST00000682837.1:c.624+98_624+99insAC ENSP00000507920.1:n.624+98_624+99insAC
ENST00000682935.1:n.2430-29_2430-28insAC
ENST00000682984.1:c.531-29_531-28insAC ENSP00000507209.1:n.531-29_531-28insAC
ENST00000683078.1:c.625-29_625-28insAC ENSP00000506796.1:n.625-29_625-28insAC
ENST00000683223.1:c.710+98_710+99insAC ENSP00000507685.1:n.710+98_710+99insAC
ENST00000683238.1:n.2251-29_2251-28insAC
ENST00000683249.1:n.2451-13_2451-12insAC
ENST00000683336.1:c.799+98_799+99insAC ENSP00000507695.1:n.799+98_799+99insAC
ENST00000683362.1:c.531-29_531-28insAC ENSP00000506985.1:n.531-29_531-28insAC
ENST00000683850.1:n.793-29_793-28insAC
ENST00000683919.1:c.800-29_800-28insAC ENSP00000507617.1:n.800-29_800-28insAC
ENST00000683953.1:c.781-29_781-28insAC ENSP00000508375.1:n.781-29_781-28insAC
ENST00000684023.1:c.1004-29_1004-28insAC ENSP00000507461.1:n.1004-29_1004-28insAC
ENST00000684064.1:c.561-29_561-28insAC ENSP00000508192.1:n.561-29_561-28insAC
ENST00000684089.1:n.2420-29_2420-28insAC
ENST00000684149.1:c.*206-29_*206-28insAC ENSP00000507943.1:n.*206-29_*206-28insAC
ENST00000684416.1:n.829-29_829-28insAC
ENST00000684540.1:c.800-29_800-28insAC ENSP00000507987.1:n.800-29_800-28insAC
ENST00000453321.8:c.870-29_870-28insAC MANE Select ENSP00000389998.3:n.870-29_870-28insAC
ENST00000323130.7:c.840-29_840-28insAC ENSP00000314488.3:n.840-29_840-28insAC
ENST00000409623.7:c.627-29_627-28insAC ENSP00000386966.3:n.627-29_627-28insAC
ENST00000425545.2:n.317-29_317-28insAC
ENST00000452276.5:c.561-29_561-28insAC ENSP00000388671.1:n.561-29_561-28insAC
ENST00000453321.7:c.870-29_870-28insAC ENSP00000389998.3:n.870-29_870-28insAC
ENST00000453906.5:c.407-5378_407-5377insAC ENSP00000403035.1:n.407-5378_407-5377insAC
ENST00000474944.5:n.427-5378_427-5377insAC
ENST00000496213.5:n.335-29_335-28insAC
NM_001142301.1:c.627-29_627-28insAC , LRG_688t2:c.627-29_627-28insAC NP_001135773.1:n.627-29_627-28insAC
NM_153704.5:c.870-29_870-28insAC , LRG_688t1:c.870-29_870-28insAC NP_714915.3:n.870-29_870-28insAC
NR_024522.1:n.941-29_941-28insAC
XM_006716686.2:c.567-29_567-28insAC XP_006716749.1:n.567-29_567-28insAC
XM_006716687.2:c.270-29_270-28insAC XP_006716750.1:n.270-29_270-28insAC
XM_011517363.1:c.407-5378_407-5377insAC XP_011515665.1:n.407-5378_407-5377insAC
XR_428387.1:n.928-29_928-28insAC
XR_928360.1:n.928-29_928-28insAC
XR_928361.1:n.928-29_928-28insAC
XR_928362.1:n.928-29_928-28insAC
XM_006716686.4:c.567-29_567-28insAC XP_006716749.1:n.567-29_567-28insAC
XM_011517363.3:c.407-5378_407-5377insAC XP_011515665.1:n.407-5378_407-5377insAC
XM_024447326.1:c.216-29_216-28insAC XP_024303094.1:n.216-29_216-28insAC
XR_001745619.2:n.911-29_911-28insAC
XR_428387.2:n.911-29_911-28insAC
XR_928360.3:n.911-29_911-28insAC
XR_928362.3:n.911-29_911-28insAC
NM_153704.6:c.870-29_870-28insAC MANE Select NP_714915.3:n.870-29_870-28insAC
NR_024522.2:n.891-29_891-28insAC