Canonical Allele Identifier: CA144459
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 56771
ClinVar RCV Id: RCV002496728 RCV003764723
dbSNP Id: rs386834190
gnomAD v3: 8-93755775-TA-T
gnomAD v4: 8-93755775-TA-T
MyVariant Identifiers: chr8:g.94768004del (hg19) chr8:g.93755776del (hg38)
PubMed: PMID:17377820
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93755776del , CM000670.2:g.93755776del GRCh38
NC_000008.10:g.94768004del , CM000670.1:g.94768004del GRCh37
NC_000008.9:g.94837180del NCBI36
NG_009190.1:g.5933del , LRG_688:g.5933del

Transcript Alleles

HGVS Amino-acid change
ENST00000323130.8:c.224-2del ENSP00000314488.4:n.224-2del
ENST00000409623.8:c.224-2del ENSP00000386966.4:n.224-2del
ENST00000452276.6:c.224-2del ENSP00000388671.2:n.224-2del
ENST00000453906.6:c.224-2del ENSP00000403035.2:n.224-2del
ENST00000520680.2:c.224-2del ENSP00000428785.2:n.224-2del
ENST00000521065.2:c.224-2del ENSP00000427947.2:n.224-2del
ENST00000521517.6:c.224-2del ENSP00000430740.2:n.224-2del
ENST00000681998.1:c.224-2del ENSP00000506773.1:n.224-2del
ENST00000682036.1:c.224-2del ENSP00000508390.1:n.224-2del
ENST00000682577.1:c.224-2del ENSP00000506963.1:n.224-2del
ENST00000682624.1:c.223+639del ENSP00000508343.1:n.223+639del
ENST00000682700.1:c.224-2del ENSP00000507627.1:n.224-2del
ENST00000682804.1:n.117-2del
ENST00000682837.1:c.224-2del ENSP00000507920.1:n.224-2del
ENST00000682935.1:n.224-2del
ENST00000682984.1:c.224-2del ENSP00000507209.1:n.224-2del
ENST00000683078.1:c.224-2del ENSP00000506796.1:n.224-2del
ENST00000683223.1:c.223+639del ENSP00000507685.1:n.223+639del
ENST00000683238.1:n.45-2del
ENST00000683249.1:n.245-2del
ENST00000683336.1:c.224-2del ENSP00000507695.1:n.224-2del
ENST00000683362.1:c.224-2del ENSP00000506985.1:n.224-2del
ENST00000683850.1:n.147-2del
ENST00000683919.1:c.224-2del ENSP00000507617.1:n.224-2del
ENST00000683953.1:c.223+639del ENSP00000508375.1:n.223+639del
ENST00000684023.1:c.224-2del ENSP00000507461.1:n.224-2del
ENST00000684064.1:c.-86-2del ENSP00000508192.1:n.-86-2del
ENST00000684089.1:n.214-2del
ENST00000684149.1:c.224-2del ENSP00000507943.1:n.224-2del
ENST00000684416.1:n.141+639del
ENST00000684540.1:c.224-2del ENSP00000507987.1:n.224-2del
ENST00000684733.1:n.247+639del
ENST00000453321.8:c.224-2del MANE Select ENSP00000389998.3:n.224-2del
ENST00000323130.7:c.194-2del ENSP00000314488.3:n.194-2del
ENST00000409623.7:c.-62+639del ENSP00000386966.3:n.-62+639del
ENST00000452276.5:c.-86-2del ENSP00000388671.1:n.-86-2del
ENST00000453321.7:c.224-2del ENSP00000389998.3:n.224-2del
ENST00000453906.5:c.224-2del ENSP00000403035.1:n.224-2del
ENST00000455946.5:c.224-2del ENSP00000416339.1:n.224-2del
ENST00000474944.5:n.244-2del
ENST00000475305.1:n.233-2del
ENST00000481620.1:n.227-2del
ENST00000498673.5:c.-299-2del ENSP00000430232.1:n.-299-2del
ENST00000518319.5:c.-292-2del ENSP00000430289.1:n.-292-2del
ENST00000521065.1:c.218+639del
ENST00000521222.5:c.224-2del ENSP00000429925.1:n.224-2del
ENST00000521517.5:c.216-2del
NM_001142301.1:c.-62+639del , LRG_688t2:c.-62+639del NP_001135773.1:n.-62+639del
NM_153704.5:c.224-2del , LRG_688t1:c.224-2del NP_714915.3:n.224-2del
NR_024522.1:n.295-2del
XM_006716686.2:c.9+639del XP_006716749.1:n.9+639del
XM_011517363.1:c.224-2del XP_011515665.1:n.224-2del
XR_428387.1:n.282-2del
XR_928360.1:n.282-2del
XR_928361.1:n.282-2del
XR_928362.1:n.282-2del
XM_006716686.4:c.9+639del XP_006716749.1:n.9+639del
XM_011517363.3:c.224-2del XP_011515665.1:n.224-2del
XM_024447326.1:c.-186-2del XP_024303094.1:n.-186-2del
XR_001745619.2:n.265-2del
XR_428387.2:n.265-2del
XR_928360.3:n.265-2del
XR_928362.3:n.265-2del
NM_153704.6:c.224-2del MANE Select NP_714915.3:n.224-2del
NR_024522.2:n.245-2del
Search 100 bp 5'
Search 100 bp 3'