Canonical Allele Identifier: CA212764

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1365
• ClinVar RCV Id: RCV000001430
• dbSNP Id: rs386834200
• MyVariant Identifiers: chr8:g.94770781_94770782del (hg19) ; chr8:g.93758553_93758554del (hg38)
• PubMed: PMID:16415887

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758553_93758554del , CM000670.2:g.93758553_93758554del	GRCh38
NC_000008.10:g.94770781_94770782del , CM000670.1:g.94770781_94770782del	GRCh37
NC_000008.9:g.94839957_94839958del	NCBI36
NG_009190.1:g.8710_8711del , LRG_688:g.8710_8711del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.383_384del	ENSP00000314488.4:p.His128LeufsTer13
ENST00000409623.8:c.383_384del	ENSP00000386966.4:p.His128LeufsTer13
ENST00000452276.6:c.383_384del	ENSP00000388671.2:p.His128LeufsTer13
ENST00000453906.6:c.383_384del	ENSP00000403035.2:p.His128LeufsTer?
ENST00000520680.2:c.383_384del	ENSP00000428785.2:p.His128LeufsTer13
ENST00000521065.2:c.383_384del	ENSP00000427947.2:p.His128LeufsTer?
ENST00000521517.6:c.383_384del	ENSP00000430740.2:p.His128LeufsTer13
ENST00000681998.1:c.383_384del	ENSP00000506773.1:p.His128LeufsTer13
ENST00000682036.1:c.383_384del	ENSP00000508390.1:p.His128LeufsTer?
ENST00000682577.1:c.383_384del	ENSP00000506963.1:p.His128LeufsTer13
ENST00000682624.1:c.*27_*28del	ENSP00000508343.1:n.*27_*28del
ENST00000682700.1:c.383_384del	ENSP00000507627.1:p.His128LeufsTer13
ENST00000682804.1:n.276_277del
ENST00000682837.1:c.383_384del	ENSP00000507920.1:p.His128LeufsTer12
ENST00000682935.1:n.383_384del
ENST00000682984.1:c.312+2687_312+2688del	ENSP00000507209.1:n.312+2687_312+2688del
ENST00000683078.1:c.383_384del	ENSP00000506796.1:p.His128LeufsTer12
ENST00000683223.1:c.294_295del	ENSP00000507685.1:n.294_295del
ENST00000683238.1:n.204_205del
ENST00000683249.1:n.404_405del
ENST00000683336.1:c.383_384del	ENSP00000507695.1:p.His128LeufsTer13
ENST00000683362.1:c.312+2687_312+2688del	ENSP00000506985.1:n.312+2687_312+2688del
ENST00000683850.1:n.306_307del
ENST00000683919.1:c.383_384del	ENSP00000507617.1:p.His128LeufsTer13
ENST00000683953.1:c.294_295del	ENSP00000508375.1:n.294_295del
ENST00000684023.1:c.383_384del	ENSP00000507461.1:p.His128LeufsTer?
ENST00000684064.1:c.74_75del	ENSP00000508192.1:p.His25LeufsTer13
ENST00000684089.1:n.373_374del
ENST00000684149.1:c.383_384del	ENSP00000507943.1:p.His128LeufsTer13
ENST00000684416.1:n.208_209del
ENST00000684540.1:c.383_384del	ENSP00000507987.1:p.His128LeufsTer13
ENST00000684733.1:n.318_319del
ENST00000453321.8:c.383_384del MANE Select	ENSP00000389998.3:p.His128LeufsTer13
ENST00000323130.7:c.353_354del	ENSP00000314488.3:p.His118LeufsTer13
ENST00000409623.7:c.6_7del	ENSP00000386966.3:p.Leu3ValfsTer7
ENST00000452276.5:c.74_75del	ENSP00000388671.1:p.His25LeufsTer13
ENST00000453321.7:c.383_384del	ENSP00000389998.3:p.His128LeufsTer13
ENST00000453906.5:c.383_384del	ENSP00000403035.1:p.His128LeufsTer?
ENST00000455946.5:c.383_384del	ENSP00000416339.1:p.His128LeufsTer?
ENST00000474944.5:n.403_404del
ENST00000475305.1:n.392_393del
ENST00000498673.5:c.-98_-97del	ENSP00000430232.1:n.-98_-97del
ENST00000518319.5:c.-137_-136del	ENSP00000430289.1:n.-137_-136del
ENST00000521065.1:c.289_290del
ENST00000521222.5:c.*19_*20del	ENSP00000429925.1:n.*19_*20del
ENST00000521517.5:c.375_376del
NM_001142301.1:c.6_7del , LRG_688t2:c.6_7del	NP_001135773.1:p.Leu3ValfsTer7
NM_153704.5:c.383_384del , LRG_688t1:c.383_384del	NP_714915.3:p.His128LeufsTer13
NR_024522.1:n.454_455del
XM_006716686.2:c.80_81del	XP_006716749.1:p.His27LeufsTer13
XM_011517363.1:c.383_384del	XP_011515665.1:p.His128LeufsTer?
XR_428387.1:n.441_442del
XR_928360.1:n.441_442del
XR_928361.1:n.441_442del
XR_928362.1:n.441_442del
XM_006716686.4:c.80_81del	XP_006716749.1:p.His27LeufsTer13
XM_011517363.3:c.383_384del	XP_011515665.1:p.His128LeufsTer?
XM_024447326.1:c.-27_-26del	XP_024303094.1:n.-27_-26del
XR_001745619.2:n.424_425del
XR_428387.2:n.424_425del
XR_928360.3:n.424_425del
XR_928362.3:n.424_425del
NM_153704.6:c.383_384del MANE Select	NP_714915.3:p.His128LeufsTer13
NR_024522.2:n.404_405del