Canonical Allele Identifier: CA2687917822

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93758565-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758567del , CM000670.2:g.93758567del	GRCh38
NC_000008.10:g.94770795del , CM000670.1:g.94770795del	GRCh37
NC_000008.9:g.94839971del	NCBI36
NG_009190.1:g.8724del , LRG_688:g.8724del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.397del	ENSP00000314488.4:p.His133IlefsTer3
ENST00000409623.8:c.397del	ENSP00000386966.4:p.His133IlefsTer3
ENST00000452276.6:c.397del	ENSP00000388671.2:p.His133IlefsTer3
ENST00000453906.6:c.397del	ENSP00000403035.2:p.His133IlefsTer3
ENST00000520680.2:c.397del	ENSP00000428785.2:p.His133IlefsTer3
ENST00000521065.2:c.397del	ENSP00000427947.2:p.His133IlefsTer3
ENST00000521517.6:c.397del	ENSP00000430740.2:p.His133IlefsTer3
ENST00000681998.1:c.397del	ENSP00000506773.1:p.His133IlefsTer3
ENST00000682036.1:c.397del	ENSP00000508390.1:p.His133IlefsTer3
ENST00000682577.1:c.397del	ENSP00000506963.1:p.His133IlefsTer3
ENST00000682624.1:c.*41del	ENSP00000508343.1:n.*41del
ENST00000682700.1:c.397del	ENSP00000507627.1:p.His133IlefsTer3
ENST00000682804.1:n.290del
ENST00000682837.1:c.397del	ENSP00000507920.1:p.His133IlefsTer3
ENST00000682935.1:n.397del
ENST00000682984.1:c.312+2701del	ENSP00000507209.1:n.312+2701del
ENST00000683078.1:c.397del	ENSP00000506796.1:p.His133IlefsTer3
ENST00000683223.1:c.308del	ENSP00000507685.1:n.308del
ENST00000683238.1:n.218del
ENST00000683249.1:n.418del
ENST00000683336.1:c.397del	ENSP00000507695.1:p.His133IlefsTer3
ENST00000683362.1:c.312+2701del	ENSP00000506985.1:n.312+2701del
ENST00000683850.1:n.320del
ENST00000683919.1:c.397del	ENSP00000507617.1:p.His133IlefsTer3
ENST00000683953.1:c.308del	ENSP00000508375.1:n.308del
ENST00000684023.1:c.397del	ENSP00000507461.1:p.His133IlefsTer3
ENST00000684064.1:c.88del	ENSP00000508192.1:p.His30IlefsTer3
ENST00000684089.1:n.387del
ENST00000684149.1:c.397del	ENSP00000507943.1:p.His133IlefsTer3
ENST00000684416.1:n.222del
ENST00000684540.1:c.397del	ENSP00000507987.1:p.His133IlefsTer3
ENST00000684733.1:n.332del
ENST00000453321.8:c.397del MANE Select	ENSP00000389998.3:p.His133IlefsTer3
ENST00000323130.7:c.367del	ENSP00000314488.3:p.His123IlefsTer3
ENST00000409623.7:c.20del	ENSP00000386966.3:p.Pro7HisfsTer7
ENST00000452276.5:c.88del	ENSP00000388671.1:p.His30IlefsTer3
ENST00000453321.7:c.397del	ENSP00000389998.3:p.His133IlefsTer3
ENST00000453906.5:c.397del	ENSP00000403035.1:p.His133IlefsTer3
ENST00000455946.5:c.397del	ENSP00000416339.1:p.His133IlefsTer3
ENST00000474944.5:n.417del
ENST00000475305.1:n.406del
ENST00000498673.5:c.-84del	ENSP00000430232.1:n.-84del
ENST00000518319.5:c.-123del	ENSP00000430289.1:n.-123del
ENST00000521065.1:c.303del
ENST00000521222.5:c.*33del	ENSP00000429925.1:n.*33del
ENST00000521517.5:c.389del
NM_001142301.1:c.20del , LRG_688t2:c.20del	NP_001135773.1:p.Pro7HisfsTer7
NM_153704.5:c.397del , LRG_688t1:c.397del	NP_714915.3:p.His133IlefsTer3
NR_024522.1:n.468del
XM_006716686.2:c.94del	XP_006716749.1:p.His32IlefsTer3
XM_011517363.1:c.397del	XP_011515665.1:p.His133IlefsTer3
XR_428387.1:n.455del
XR_928360.1:n.455del
XR_928361.1:n.455del
XR_928362.1:n.455del
XM_006716686.4:c.94del	XP_006716749.1:p.His32IlefsTer3
XM_011517363.3:c.397del	XP_011515665.1:p.His133IlefsTer3
XM_024447326.1:c.-13del	XP_024303094.1:n.-13del
XR_001745619.2:n.438del
XR_428387.2:n.438del
XR_928360.3:n.438del
XR_928362.3:n.438del
NM_153704.6:c.397del MANE Select	NP_714915.3:p.His133IlefsTer3
NR_024522.2:n.418del