Canonical Allele Identifier: CA2579205608

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780658del , CM000670.2:g.93780658del	GRCh38
NC_000008.10:g.94792886del , CM000670.1:g.94792886del	GRCh37
NC_000008.9:g.94862062del	NCBI36
NG_009190.1:g.30815del , LRG_688:g.30815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.780del	ENSP00000314488.4:p.Tyr260Ter
ENST00000409623.8:c.780del	ENSP00000386966.4:p.Tyr260Ter
ENST00000452276.6:c.780del	ENSP00000388671.2:p.Tyr260Ter
ENST00000453906.6:c.407-5565del	ENSP00000403035.2:n.407-5565del
ENST00000520680.2:c.780del	ENSP00000428785.2:p.Tyr260Ter
ENST00000521065.2:c.*497del	ENSP00000427947.2:n.*497del
ENST00000521517.6:c.780del	ENSP00000430740.2:p.Tyr260Ter
ENST00000681998.1:c.710del	ENSP00000506773.1:n.710del
ENST00000682036.1:c.407-5565del	ENSP00000508390.1:n.407-5565del
ENST00000682577.1:c.710del	ENSP00000506963.1:n.710del
ENST00000682624.1:c.*354del	ENSP00000508343.1:n.*354del
ENST00000682700.1:c.780del	ENSP00000507627.1:p.Tyr260Ter
ENST00000682744.1:n.318del
ENST00000682804.1:n.603del
ENST00000682837.1:c.535del	ENSP00000507920.1:p.Arg179AspfsTer30
ENST00000682935.1:n.2340del
ENST00000682984.1:c.441del	ENSP00000507209.1:p.Tyr147Ter
ENST00000683078.1:c.535del	ENSP00000506796.1:p.Arg179AspfsTer?
ENST00000683223.1:c.621del	ENSP00000507685.1:n.621del
ENST00000683238.1:n.2161del
ENST00000683249.1:n.2361del
ENST00000683336.1:c.710del	ENSP00000507695.1:n.710del
ENST00000683362.1:c.441del	ENSP00000506985.1:p.Tyr147Ter
ENST00000683850.1:n.703del
ENST00000683919.1:c.710del	ENSP00000507617.1:n.710del
ENST00000683953.1:c.691del	ENSP00000508375.1:n.691del
ENST00000684023.1:c.914del	ENSP00000507461.1:n.914del
ENST00000684064.1:c.471del	ENSP00000508192.1:p.Tyr157Ter
ENST00000684089.1:n.2330del
ENST00000684149.1:c.*116del	ENSP00000507943.1:n.*116del
ENST00000684416.1:n.739del
ENST00000684540.1:c.710del	ENSP00000507987.1:n.710del
ENST00000453321.8:c.780del MANE Select	ENSP00000389998.3:p.Tyr260Ter
ENST00000323130.7:c.750del	ENSP00000314488.3:p.Tyr250Ter
ENST00000409623.7:c.537del	ENSP00000386966.3:p.Tyr179Ter
ENST00000425545.2:n.227del
ENST00000452276.5:c.471del	ENSP00000388671.1:p.Tyr157Ter
ENST00000453321.7:c.780del	ENSP00000389998.3:p.Tyr260Ter
ENST00000453906.5:c.407-5565del	ENSP00000403035.1:n.407-5565del
ENST00000474944.5:n.427-5565del
ENST00000496213.5:n.245del
NM_001142301.1:c.537del , LRG_688t2:c.537del	NP_001135773.1:p.Tyr179Ter
NM_153704.5:c.780del , LRG_688t1:c.780del	NP_714915.3:p.Tyr260Ter
NR_024522.1:n.851del
XM_006716686.2:c.477del	XP_006716749.1:p.Tyr159Ter
XM_006716687.2:c.180del	XP_006716750.1:p.Tyr60Ter
XM_011517363.1:c.407-5565del	XP_011515665.1:n.407-5565del
XR_428387.1:n.838del
XR_928360.1:n.838del
XR_928361.1:n.838del
XR_928362.1:n.838del
XM_006716686.4:c.477del	XP_006716749.1:p.Tyr159Ter
XM_011517363.3:c.407-5565del	XP_011515665.1:n.407-5565del
XM_024447326.1:c.126del	XP_024303094.1:p.Tyr42Ter
XR_001745619.2:n.821del
XR_428387.2:n.821del
XR_928360.3:n.821del
XR_928362.3:n.821del
NM_153704.6:c.780del MANE Select	NP_714915.3:p.Tyr260Ter
NR_024522.2:n.801del