Canonical Allele Identifier: CA2781323589

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93765286_93765375del , CM000670.2:g.93765286_93765375del	GRCh38
NC_000008.10:g.94777514_94777603del , CM000670.1:g.94777514_94777603del	GRCh37
NC_000008.9:g.94846690_94846779del	NCBI36
NG_009190.1:g.15443_15532del , LRG_688:g.15443_15532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.507-120_507-31del	ENSP00000314488.4:n.507-120_507-31del
ENST00000409623.8:c.507-120_507-31del	ENSP00000386966.4:n.507-120_507-31del
ENST00000452276.6:c.507-120_507-31del	ENSP00000388671.2:n.507-120_507-31del
ENST00000453906.6:c.406+6710_406+6799del	ENSP00000403035.2:n.406+6710_406+6799del
ENST00000520680.2:c.507-120_507-31del	ENSP00000428785.2:n.507-120_507-31del
ENST00000521065.2:c.*224-120_*224-31del	ENSP00000427947.2:n.*224-120_*224-31del
ENST00000521517.6:c.507-120_507-31del	ENSP00000430740.2:n.507-120_507-31del
ENST00000681998.1:c.507-286_507-197del	ENSP00000506773.1:n.507-286_507-197del
ENST00000682036.1:c.406+6710_406+6799del	ENSP00000508390.1:n.406+6710_406+6799del
ENST00000682577.1:c.507-286_507-197del	ENSP00000506963.1:n.507-286_507-197del
ENST00000682624.1:c.*151-286_*151-197del	ENSP00000508343.1:n.*151-286_*151-197del
ENST00000682700.1:c.507-120_507-31del	ENSP00000507627.1:n.507-120_507-31del
ENST00000682804.1:n.400-286_400-197del
ENST00000682837.1:c.406+6710_406+6799del	ENSP00000507920.1:n.406+6710_406+6799del
ENST00000682935.1:n.1851_1940del
ENST00000682984.1:c.313-7303_313-7214del	ENSP00000507209.1:n.313-7303_313-7214del
ENST00000683078.1:c.406+6710_406+6799del	ENSP00000506796.1:n.406+6710_406+6799del
ENST00000683223.1:c.418-286_418-197del	ENSP00000507685.1:n.418-286_418-197del
ENST00000683238.1:n.1672_1761del
ENST00000683249.1:n.1872_1961del
ENST00000683336.1:c.507-286_507-197del	ENSP00000507695.1:n.507-286_507-197del
ENST00000683362.1:c.313-7303_313-7214del	ENSP00000506985.1:n.313-7303_313-7214del
ENST00000683850.1:n.430-120_430-31del
ENST00000683919.1:c.507-286_507-197del	ENSP00000507617.1:n.507-286_507-197del
ENST00000683953.1:c.418-120_418-31del	ENSP00000508375.1:n.418-120_418-31del
ENST00000684023.1:c.641-120_641-31del	ENSP00000507461.1:n.641-120_641-31del
ENST00000684064.1:c.198-120_198-31del	ENSP00000508192.1:n.198-120_198-31del
ENST00000684089.1:n.1841_1930del
ENST00000684149.1:c.507-286_507-197del	ENSP00000507943.1:n.507-286_507-197del
ENST00000684416.1:n.466-120_466-31del
ENST00000684540.1:c.507-286_507-197del	ENSP00000507987.1:n.507-286_507-197del
ENST00000453321.8:c.507-120_507-31del MANE Select	ENSP00000389998.3:n.507-120_507-31del
ENST00000323130.7:c.477-120_477-31del	ENSP00000314488.3:n.477-120_477-31del
ENST00000409623.7:c.264-120_264-31del	ENSP00000386966.3:n.264-120_264-31del
ENST00000452276.5:c.198-120_198-31del	ENSP00000388671.1:n.198-120_198-31del
ENST00000453321.7:c.507-120_507-31del	ENSP00000389998.3:n.507-120_507-31del
ENST00000453906.5:c.406+6710_406+6799del	ENSP00000403035.1:n.406+6710_406+6799del
ENST00000455946.5:c.*179-120_*179-31del	ENSP00000416339.1:n.*179-120_*179-31del
ENST00000474944.5:n.426+6710_426+6799del
ENST00000518319.5:c.27-120_27-31del	ENSP00000430289.1:n.27-120_27-31del
ENST00000521065.1:c.413-120_413-31del
ENST00000521222.5:c.*143-120_*143-31del	ENSP00000429925.1:n.*143-120_*143-31del
ENST00000521517.5:c.499-286_499-197del
NM_001142301.1:c.264-120_264-31del , LRG_688t2:c.264-120_264-31del	NP_001135773.1:n.264-120_264-31del
NM_153704.5:c.507-120_507-31del , LRG_688t1:c.507-120_507-31del	NP_714915.3:n.507-120_507-31del
NR_024522.1:n.578-120_578-31del
XM_006716686.2:c.204-120_204-31del	XP_006716749.1:n.204-120_204-31del
XM_011517363.1:c.406+6710_406+6799del	XP_011515665.1:n.406+6710_406+6799del
XR_428387.1:n.565-120_565-31del
XR_928360.1:n.565-120_565-31del
XR_928361.1:n.565-120_565-31del
XR_928362.1:n.565-120_565-31del
XM_006716686.4:c.204-120_204-31del	XP_006716749.1:n.204-120_204-31del
XM_011517363.3:c.406+6710_406+6799del	XP_011515665.1:n.406+6710_406+6799del
XM_024447326.1:c.-4+6710_-4+6799del	XP_024303094.1:n.-4+6710_-4+6799del
XR_001745619.2:n.548-120_548-31del
XR_428387.2:n.548-120_548-31del
XR_928360.3:n.548-120_548-31del
XR_928362.3:n.548-120_548-31del
NM_153704.6:c.507-120_507-31del MANE Select	NP_714915.3:n.507-120_507-31del
NR_024522.2:n.528-120_528-31del