Canonical Allele Identifier: CA1116700145
Gene: TMEM67 HGNC NCBI

Linked Data

dbSNP Id: rs1813767869

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780506del , CM000670.2:g.93780506del GRCh38
NC_000008.10:g.94792734del , CM000670.1:g.94792734del GRCh37
NC_000008.9:g.94861910del NCBI36
NG_009190.1:g.30663del , LRG_688:g.30663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.715-87del ENSP00000314488.4:n.715-87del
ENST00000409623.8:c.715-87del ENSP00000386966.4:n.715-87del
ENST00000452276.6:c.715-87del ENSP00000388671.2:n.715-87del
ENST00000453906.6:c.407-5717del ENSP00000403035.2:n.407-5717del
ENST00000520680.2:c.715-87del ENSP00000428785.2:n.715-87del
ENST00000521065.2:c.*432-87del ENSP00000427947.2:n.*432-87del
ENST00000521517.6:c.715-87del ENSP00000430740.2:n.715-87del
ENST00000681998.1:c.645-87del ENSP00000506773.1:n.645-87del
ENST00000682036.1:c.407-5717del ENSP00000508390.1:n.407-5717del
ENST00000682577.1:c.645-87del ENSP00000506963.1:n.645-87del
ENST00000682624.1:c.*289-87del ENSP00000508343.1:n.*289-87del
ENST00000682700.1:c.715-87del ENSP00000507627.1:n.715-87del
ENST00000682744.1:n.166del
ENST00000682804.1:n.538-87del
ENST00000682837.1:c.470-87del ENSP00000507920.1:n.470-87del
ENST00000682935.1:n.2275-87del
ENST00000682984.1:c.376-87del ENSP00000507209.1:n.376-87del
ENST00000683078.1:c.470-87del ENSP00000506796.1:n.470-87del
ENST00000683223.1:c.556-87del ENSP00000507685.1:n.556-87del
ENST00000683238.1:n.2096-87del
ENST00000683249.1:n.2296-87del
ENST00000683336.1:c.645-87del ENSP00000507695.1:n.645-87del
ENST00000683362.1:c.376-87del ENSP00000506985.1:n.376-87del
ENST00000683850.1:n.638-87del
ENST00000683919.1:c.645-87del ENSP00000507617.1:n.645-87del
ENST00000683953.1:c.626-87del ENSP00000508375.1:n.626-87del
ENST00000684023.1:c.849-87del ENSP00000507461.1:n.849-87del
ENST00000684064.1:c.406-87del ENSP00000508192.1:n.406-87del
ENST00000684089.1:n.2265-87del
ENST00000684149.1:c.*51-87del ENSP00000507943.1:n.*51-87del
ENST00000684416.1:n.674-87del
ENST00000684540.1:c.645-87del ENSP00000507987.1:n.645-87del
ENST00000453321.8:c.715-87del MANE Select ENSP00000389998.3:n.715-87del
ENST00000323130.7:c.685-87del ENSP00000314488.3:n.685-87del
ENST00000409623.7:c.472-87del ENSP00000386966.3:n.472-87del
ENST00000425545.2:n.162-87del
ENST00000452276.5:c.406-87del ENSP00000388671.1:n.406-87del
ENST00000453321.7:c.715-87del ENSP00000389998.3:n.715-87del
ENST00000453906.5:c.407-5717del ENSP00000403035.1:n.407-5717del
ENST00000474944.5:n.427-5717del
ENST00000496213.5:n.180-87del
NM_001142301.1:c.472-87del , LRG_688t2:c.472-87del NP_001135773.1:n.472-87del
NM_153704.5:c.715-87del , LRG_688t1:c.715-87del NP_714915.3:n.715-87del
NR_024522.1:n.786-87del
XM_006716686.2:c.412-87del XP_006716749.1:n.412-87del
XM_006716687.2:c.115-87del XP_006716750.1:n.115-87del
XM_011517363.1:c.407-5717del XP_011515665.1:n.407-5717del
XR_428387.1:n.773-87del
XR_928360.1:n.773-87del
XR_928361.1:n.773-87del
XR_928362.1:n.773-87del
XM_006716686.4:c.412-87del XP_006716749.1:n.412-87del
XM_011517363.3:c.407-5717del XP_011515665.1:n.407-5717del
XM_024447326.1:c.61-87del XP_024303094.1:n.61-87del
XR_001745619.2:n.756-87del
XR_428387.2:n.756-87del
XR_928360.3:n.756-87del
XR_928362.3:n.756-87del
NM_153704.6:c.715-87del MANE Select NP_714915.3:n.715-87del
NR_024522.2:n.736-87del