Canonical Allele Identifier: CA2687917821
Gene: TMEM67 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93758502dup , CM000670.2:g.93758502dup GRCh38
NC_000008.10:g.94770730dup , CM000670.1:g.94770730dup GRCh37
NC_000008.9:g.94839906dup NCBI36
NG_009190.1:g.8659dup , LRG_688:g.8659dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323130.8:c.332dup ENSP00000314488.4:p.Trp112LeufsTer8
ENST00000409623.8:c.332dup ENSP00000386966.4:p.Trp112LeufsTer8
ENST00000452276.6:c.332dup ENSP00000388671.2:p.Trp112LeufsTer8
ENST00000453906.6:c.332dup ENSP00000403035.2:p.Trp112LeufsTer8
ENST00000520680.2:c.332dup ENSP00000428785.2:p.Trp112LeufsTer8
ENST00000521065.2:c.332dup ENSP00000427947.2:p.Trp112LeufsTer8
ENST00000521517.6:c.332dup ENSP00000430740.2:p.Trp112LeufsTer8
ENST00000681998.1:c.332dup ENSP00000506773.1:p.Trp112LeufsTer8
ENST00000682036.1:c.332dup ENSP00000508390.1:p.Trp112LeufsTer8
ENST00000682577.1:c.332dup ENSP00000506963.1:p.Trp112LeufsTer8
ENST00000682624.1:c.243dup ENSP00000508343.1:p.Leu82AlafsTer11
ENST00000682700.1:c.332dup ENSP00000507627.1:p.Trp112LeufsTer8
ENST00000682804.1:n.225dup
ENST00000682837.1:c.332dup ENSP00000507920.1:p.Trp112LeufsTer8
ENST00000682935.1:n.332dup
ENST00000682984.1:c.312+2636dup ENSP00000507209.1:n.312+2636dup
ENST00000683078.1:c.332dup ENSP00000506796.1:p.Trp112LeufsTer8
ENST00000683223.1:c.243dup ENSP00000507685.1:p.Leu82AlafsTer11
ENST00000683238.1:n.153dup
ENST00000683249.1:n.353dup
ENST00000683336.1:c.332dup ENSP00000507695.1:p.Trp112LeufsTer8
ENST00000683362.1:c.312+2636dup ENSP00000506985.1:n.312+2636dup
ENST00000683850.1:n.255dup
ENST00000683919.1:c.332dup ENSP00000507617.1:p.Trp112LeufsTer8
ENST00000683953.1:c.243dup ENSP00000508375.1:p.Leu82AlafsTer11
ENST00000684023.1:c.332dup ENSP00000507461.1:p.Trp112LeufsTer8
ENST00000684064.1:c.23dup ENSP00000508192.1:p.Trp9LeufsTer8
ENST00000684089.1:n.322dup
ENST00000684149.1:c.332dup ENSP00000507943.1:p.Trp112LeufsTer8
ENST00000684416.1:n.157dup
ENST00000684540.1:c.332dup ENSP00000507987.1:p.Trp112LeufsTer8
ENST00000684733.1:n.267dup
ENST00000453321.8:c.332dup MANE Select ENSP00000389998.3:p.Trp112LeufsTer8
ENST00000323130.7:c.302dup ENSP00000314488.3:p.Trp102LeufsTer8
ENST00000409623.7:c.-46dup ENSP00000386966.3:n.-46dup
ENST00000452276.5:c.23dup ENSP00000388671.1:p.Trp9LeufsTer8
ENST00000453321.7:c.332dup ENSP00000389998.3:p.Trp112LeufsTer8
ENST00000453906.5:c.332dup ENSP00000403035.1:p.Trp112LeufsTer8
ENST00000455946.5:c.332dup ENSP00000416339.1:p.Trp112LeufsTer8
ENST00000474944.5:n.352dup
ENST00000475305.1:n.341dup
ENST00000498673.5:c.-149dup ENSP00000430232.1:n.-149dup
ENST00000518319.5:c.-188dup ENSP00000430289.1:n.-188dup
ENST00000521065.1:c.238dup
ENST00000521222.5:c.328dup ENSP00000429925.1:p.Ala110GlyfsTer?
ENST00000521517.5:c.324dup
NM_001142301.1:c.-46dup , LRG_688t2:c.-46dup NP_001135773.1:n.-46dup
NM_153704.5:c.332dup , LRG_688t1:c.332dup NP_714915.3:p.Trp112LeufsTer8
NR_024522.1:n.403dup
XM_006716686.2:c.29dup XP_006716749.1:p.Trp11LeufsTer8
XM_011517363.1:c.332dup XP_011515665.1:p.Trp112LeufsTer8
XR_428387.1:n.390dup
XR_928360.1:n.390dup
XR_928361.1:n.390dup
XR_928362.1:n.390dup
XM_006716686.4:c.29dup XP_006716749.1:p.Trp11LeufsTer8
XM_011517363.3:c.332dup XP_011515665.1:p.Trp112LeufsTer8
XM_024447326.1:c.-78dup XP_024303094.1:n.-78dup
XR_001745619.2:n.373dup
XR_428387.2:n.373dup
XR_928360.3:n.373dup
XR_928362.3:n.373dup
NM_153704.6:c.332dup MANE Select NP_714915.3:p.Trp112LeufsTer8
NR_024522.2:n.353dup