Canonical Allele Identifier: CA2687919756

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780974-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780974_93780975insTTT , CM000670.2:g.93780974_93780975insTTT	GRCh38
NC_000008.10:g.94793202_94793203insTTT , CM000670.1:g.94793202_94793203insTTT	GRCh37
NC_000008.9:g.94862378_94862379insTTT	NCBI36
NG_009190.1:g.31131_31132insTTT , LRG_688:g.31131_31132insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.970_971insTTT	ENSP00000314488.4:p.Glu324ValfsTer2
ENST00000409623.8:c.970_971insTTT	ENSP00000386966.4:p.Glu324ValfsTer2
ENST00000452276.6:c.970_971insTTT	ENSP00000388671.2:p.Glu324ValfsTer2
ENST00000453906.6:c.407-5249_407-5248insTTT	ENSP00000403035.2:n.407-5249_407-5248insTTT
ENST00000520680.2:c.970_971insTTT	ENSP00000428785.2:p.Glu324ValfsTer2
ENST00000521065.2:c.*687_*688insTTT	ENSP00000427947.2:n.*687_*688insTTT
ENST00000521517.6:c.970_971insTTT	ENSP00000430740.2:p.Glu324ValfsTer2
ENST00000681998.1:c.799+227_799+228insTTT	ENSP00000506773.1:n.799+227_799+228insTTT
ENST00000682036.1:c.407-5249_407-5248insTTT	ENSP00000508390.1:n.407-5249_407-5248insTTT
ENST00000682577.1:c.900_901insTTT	ENSP00000506963.1:n.900_901insTTT
ENST00000682624.1:c.*544_*545insTTT	ENSP00000508343.1:n.*544_*545insTTT
ENST00000682700.1:c.970_971insTTT	ENSP00000507627.1:p.Glu324ValfsTer2
ENST00000682744.1:n.508_509insTTT
ENST00000682804.1:n.793_794insTTT
ENST00000682837.1:c.624+227_624+228insTTT	ENSP00000507920.1:n.624+227_624+228insTTT
ENST00000682935.1:n.2530_2531insTTT
ENST00000682984.1:c.631_632insTTT	ENSP00000507209.1:p.Glu211ValfsTer2
ENST00000683078.1:c.725_726insTTT	ENSP00000506796.1:n.725_726insTTT
ENST00000683223.1:c.710+227_710+228insTTT	ENSP00000507685.1:n.710+227_710+228insTTT
ENST00000683238.1:n.2351_2352insTTT
ENST00000683249.1:n.2567_2568insTTT
ENST00000683336.1:c.799+227_799+228insTTT	ENSP00000507695.1:n.799+227_799+228insTTT
ENST00000683362.1:c.631_632insTTT	ENSP00000506985.1:p.Glu211ValfsTer2
ENST00000683850.1:n.893_894insTTT
ENST00000683919.1:c.900_901insTTT	ENSP00000507617.1:n.900_901insTTT
ENST00000683953.1:c.881_882insTTT	ENSP00000508375.1:n.881_882insTTT
ENST00000684023.1:c.1104_1105insTTT	ENSP00000507461.1:n.1104_1105insTTT
ENST00000684064.1:c.661_662insTTT	ENSP00000508192.1:p.Glu221ValfsTer2
ENST00000684089.1:n.2520_2521insTTT
ENST00000684149.1:c.*306_*307insTTT	ENSP00000507943.1:n.*306_*307insTTT
ENST00000684416.1:n.929_930insTTT
ENST00000684540.1:c.900_901insTTT	ENSP00000507987.1:n.900_901insTTT
ENST00000453321.8:c.970_971insTTT MANE Select	ENSP00000389998.3:p.Glu324ValfsTer2
ENST00000323130.7:c.940_941insTTT	ENSP00000314488.3:p.Glu314ValfsTer2
ENST00000409623.7:c.727_728insTTT	ENSP00000386966.3:p.Glu243ValfsTer2
ENST00000425545.2:n.417_418insTTT
ENST00000452276.5:c.661_662insTTT	ENSP00000388671.1:p.Glu221ValfsTer2
ENST00000453321.7:c.970_971insTTT	ENSP00000389998.3:p.Glu324ValfsTer2
ENST00000453906.5:c.407-5249_407-5248insTTT	ENSP00000403035.1:n.407-5249_407-5248insTTT
ENST00000474944.5:n.427-5249_427-5248insTTT
NM_001142301.1:c.727_728insTTT , LRG_688t2:c.727_728insTTT	NP_001135773.1:p.Glu243ValfsTer2
NM_153704.5:c.970_971insTTT , LRG_688t1:c.970_971insTTT	NP_714915.3:p.Glu324ValfsTer2
NR_024522.1:n.1041_1042insTTT
XM_006716686.2:c.667_668insTTT	XP_006716749.1:p.Glu223ValfsTer2
XM_006716687.2:c.370_371insTTT	XP_006716750.1:p.Glu124ValfsTer2
XM_011517363.1:c.407-5249_407-5248insTTT	XP_011515665.1:n.407-5249_407-5248insTTT
XR_428387.1:n.1028_1029insTTT
XR_928360.1:n.1028_1029insTTT
XR_928361.1:n.1028_1029insTTT
XR_928362.1:n.1028_1029insTTT
XM_006716686.4:c.667_668insTTT	XP_006716749.1:p.Glu223ValfsTer2
XM_011517363.3:c.407-5249_407-5248insTTT	XP_011515665.1:n.407-5249_407-5248insTTT
XM_024447326.1:c.316_317insTTT	XP_024303094.1:p.Glu106ValfsTer2
XR_001745619.2:n.1011_1012insTTT
XR_428387.2:n.1011_1012insTTT
XR_928360.3:n.1011_1012insTTT
XR_928362.3:n.1011_1012insTTT
NM_153704.6:c.970_971insTTT MANE Select	NP_714915.3:p.Glu324ValfsTer2
NR_024522.2:n.991_992insTTT