Canonical Allele Identifier: CA16618721
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 422534
ClinVar RCV Id: RCV000480379
dbSNP Id: rs1064795843

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93809101del , CM000670.2:g.93809101del GRCh38
NC_000008.10:g.94821329del , CM000670.1:g.94821329del GRCh37
NC_000008.9:g.94890505del NCBI36
NG_009190.1:g.59258del , LRG_688:g.59258del

Transcript Alleles

HGVS Amino-acid change
ENST00000323130.8:c.2601del ENSP00000314488.4:p.Phe867LeufsTer5
ENST00000409623.8:c.2556del ENSP00000386966.4:p.Phe852LeufsTer5
ENST00000452276.6:c.2484del ENSP00000388671.2:p.Phe828LeufsTer5
ENST00000453906.6:c.1719del ENSP00000403035.2:p.Phe573LeufsTer5
ENST00000518896.2:c.892del ENSP00000507992.1:n.892del
ENST00000520680.2:c.2724del ENSP00000428785.2:p.Phe908LeufsTer5
ENST00000521517.6:c.2502del ENSP00000430740.2:p.Phe834LeufsTer5
ENST00000681998.1:c.2422del ENSP00000506773.1:n.2422del
ENST00000682036.1:c.1842del ENSP00000508390.1:p.Phe614LeufsTer5
ENST00000682577.1:c.2374del ENSP00000506963.1:n.2374del
ENST00000682624.1:c.*2175del ENSP00000508343.1:n.*2175del
ENST00000682700.1:c.2601del ENSP00000507627.1:p.Phe867LeufsTer5
ENST00000682744.1:n.2139del
ENST00000682804.1:n.2424del
ENST00000682837.1:c.2090del ENSP00000507920.1:n.2090del
ENST00000682935.1:n.4651del
ENST00000682984.1:c.2262del ENSP00000507209.1:p.Phe754LeufsTer5
ENST00000683078.1:c.2356del ENSP00000506796.1:n.2356del
ENST00000683223.1:c.2333del ENSP00000507685.1:n.2333del
ENST00000683238.1:n.3825del
ENST00000683249.1:n.4198del
ENST00000683336.1:c.2422del ENSP00000507695.1:n.2422del
ENST00000683362.1:c.2262del ENSP00000506985.1:p.Phe754LeufsTer5
ENST00000683850.1:n.2524del
ENST00000683919.1:c.2531del ENSP00000507617.1:n.2531del
ENST00000683953.1:c.2512del ENSP00000508375.1:n.2512del
ENST00000684023.1:c.2578del ENSP00000507461.1:n.2578del
ENST00000684064.1:c.2292del ENSP00000508192.1:p.Phe764LeufsTer5
ENST00000684089.1:n.4151del
ENST00000684149.1:c.*1780del ENSP00000507943.1:n.*1780del
ENST00000684343.1:c.798del ENSP00000507591.1:p.Phe266LeufsTer5
ENST00000684416.1:n.2560del
ENST00000684540.1:c.2531del ENSP00000507987.1:n.2531del
ENST00000453321.8:c.2601del MANE Select ENSP00000389998.3:p.Phe867LeufsTer5
ENST00000323130.7:c.2571del ENSP00000314488.3:p.Phe857LeufsTer5
ENST00000409623.7:c.2358del ENSP00000386966.3:p.Phe786LeufsTer5
ENST00000453321.7:c.2601del ENSP00000389998.3:p.Phe867LeufsTer5
ENST00000474944.5:n.1739del
ENST00000519845.5:n.1333del
NM_001142301.1:c.2358del , LRG_688t2:c.2358del NP_001135773.1:p.Phe786LeufsTer5
NM_153704.5:c.2601del , LRG_688t1:c.2601del NP_714915.3:p.Phe867LeufsTer5
NR_024522.1:n.2672del
XM_006716686.2:c.2298del XP_006716749.1:p.Phe766LeufsTer5
XM_006716687.2:c.2001del XP_006716750.1:p.Phe667LeufsTer5
XM_011517363.1:c.1719del XP_011515665.1:p.Phe573LeufsTer5
XR_428387.1:n.2659del
XR_928360.1:n.2659del
XR_928361.1:n.2659del
XR_928362.1:n.2659del
XM_006716686.4:c.2298del XP_006716749.1:p.Phe766LeufsTer5
XM_011517363.3:c.1719del XP_011515665.1:p.Phe573LeufsTer5
XM_024447326.1:c.1947del XP_024303094.1:p.Phe649LeufsTer5
XR_001745619.2:n.2642del
XR_428387.2:n.2642del
XR_928360.3:n.2642del
XR_928362.3:n.2642del
NM_153704.6:c.2601del MANE Select NP_714915.3:p.Phe867LeufsTer5
NR_024522.2:n.2622del