Canonical Allele Identifier: CA4807936

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 225493
• ClinVar RCV Id: RCV000490354 ; RCV003765357 ; RCV003997697
• dbSNP Id: rs749435317
• ExAC: 8:94798514 GA / G
• gnomAD v2: 8-94798514-GA-G
• gnomAD v4: 8-93786286-GA-G
• MyVariant Identifiers: chr8:g.94798515del (hg19) ; chr8:g.93786287del (hg38)
• PubMed: PMID:16415887

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786287del , CM000670.2:g.93786287del	GRCh38
NC_000008.10:g.94798515del , CM000670.1:g.94798515del	GRCh37
NC_000008.9:g.94867691del	NCBI36
NG_009190.1:g.36444del , LRG_688:g.36444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1353del	ENSP00000314488.4:p.Glu452LysfsTer4
ENST00000409623.8:c.1308del	ENSP00000386966.4:p.Glu437LysfsTer4
ENST00000452276.6:c.1353del	ENSP00000388671.2:p.Glu452LysfsTer4
ENST00000453906.6:c.471del	ENSP00000403035.2:p.Glu158LysfsTer4
ENST00000520680.2:c.1353del	ENSP00000428785.2:p.Glu452LysfsTer4
ENST00000521517.6:c.1353del	ENSP00000430740.2:p.Glu452LysfsTer4
ENST00000681998.1:c.1174del	ENSP00000506773.1:n.1174del
ENST00000682036.1:c.471del	ENSP00000508390.1:p.Glu158LysfsTer4
ENST00000682577.1:c.1126del	ENSP00000506963.1:n.1126del
ENST00000682624.1:c.*927del	ENSP00000508343.1:n.*927del
ENST00000682700.1:c.1353del	ENSP00000507627.1:p.Glu452LysfsTer4
ENST00000682744.1:n.891del
ENST00000682804.1:n.1176del
ENST00000682837.1:c.842del	ENSP00000507920.1:n.842del
ENST00000682935.1:n.3403del
ENST00000682984.1:c.1014del	ENSP00000507209.1:p.Glu339LysfsTer4
ENST00000683078.1:c.1108del	ENSP00000506796.1:n.1108del
ENST00000683223.1:c.1085del	ENSP00000507685.1:n.1085del
ENST00000683238.1:n.2577del
ENST00000683249.1:n.2950del
ENST00000683336.1:c.1174del	ENSP00000507695.1:n.1174del
ENST00000683362.1:c.1014del	ENSP00000506985.1:p.Glu339LysfsTer4
ENST00000683850.1:n.1276del
ENST00000683919.1:c.1283del	ENSP00000507617.1:n.1283del
ENST00000683953.1:c.1264del	ENSP00000508375.1:n.1264del
ENST00000684023.1:c.1330del	ENSP00000507461.1:n.1330del
ENST00000684064.1:c.1044del	ENSP00000508192.1:p.Glu349LysfsTer4
ENST00000684089.1:n.2903del
ENST00000684149.1:c.*532del	ENSP00000507943.1:n.*532del
ENST00000684416.1:n.1312del
ENST00000684540.1:c.1283del	ENSP00000507987.1:n.1283del
ENST00000453321.8:c.1353del MANE Select	ENSP00000389998.3:p.Glu452LysfsTer4
ENST00000323130.7:c.1323del	ENSP00000314488.3:p.Glu442LysfsTer4
ENST00000409623.7:c.1110del	ENSP00000386966.3:p.Glu371LysfsTer4
ENST00000452276.5:c.1044del	ENSP00000388671.1:p.Glu349LysfsTer4
ENST00000453321.7:c.1353del	ENSP00000389998.3:p.Glu452LysfsTer4
ENST00000453906.5:c.471del	ENSP00000403035.1:p.Glu158LysfsTer4
ENST00000474944.5:n.491del
ENST00000520680.1:c.175del
NM_001142301.1:c.1110del , LRG_688t2:c.1110del	NP_001135773.1:p.Glu371LysfsTer4
NM_153704.5:c.1353del , LRG_688t1:c.1353del	NP_714915.3:p.Glu452LysfsTer4
NR_024522.1:n.1424del
XM_006716686.2:c.1050del	XP_006716749.1:p.Glu351LysfsTer4
XM_006716687.2:c.753del	XP_006716750.1:p.Glu252LysfsTer4
XM_011517363.1:c.471del	XP_011515665.1:p.Glu158LysfsTer4
XR_428387.1:n.1411del
XR_928360.1:n.1411del
XR_928361.1:n.1411del
XR_928362.1:n.1411del
XM_006716686.4:c.1050del	XP_006716749.1:p.Glu351LysfsTer4
XM_011517363.3:c.471del	XP_011515665.1:p.Glu158LysfsTer4
XM_024447326.1:c.699del	XP_024303094.1:p.Glu234LysfsTer4
XR_001745619.2:n.1394del
XR_428387.2:n.1394del
XR_928360.3:n.1394del
XR_928362.3:n.1394del
NM_153704.6:c.1353del MANE Select	NP_714915.3:p.Glu452LysfsTer4
NR_024522.2:n.1374del