Canonical Allele Identifier: CA16612561
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 411583
ClinVar RCV Id: RCV000458928
dbSNP Id: rs1064792983

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93803676_93803688delinsGG , CM000670.2:g.93803676_93803688delinsGG GRCh38
NC_000008.10:g.94815904_94815916delinsGG , CM000670.1:g.94815904_94815916delinsGG GRCh37
NC_000008.9:g.94885080_94885092delinsGG NCBI36
NG_009190.1:g.53833_53845delinsGG , LRG_688:g.53833_53845delinsGG

Transcript Alleles

HGVS Amino-acid change
ENST00000323130.8:c.2314_2322+4delinsGG
ENST00000409623.8:c.2269_2277+4delinsGG
ENST00000452276.6:c.2314_2322+4delinsGG
ENST00000453906.6:c.1432_1440+4delinsGG
ENST00000518896.2:c.605_613+4delinsGG
ENST00000520680.2:c.2437_2445+4delinsGG
ENST00000521517.6:c.2215_2223+4delinsGG
ENST00000681998.1:c.2135_2143+4delinsGG
ENST00000682036.1:c.1555_1563+4delinsGG
ENST00000682577.1:c.2087_2095+4delinsGG
ENST00000682624.1:c.*1888_*1896+4delinsGG
ENST00000682700.1:c.2314_2322+4delinsGG
ENST00000682744.1:n.1852_1860+4delinsGG
ENST00000682804.1:n.2137_2145+4delinsGG
ENST00000682837.1:c.1803_1811+4delinsGG
ENST00000682935.1:n.4364_4372+4delinsGG
ENST00000682984.1:c.1975_1983+4delinsGG
ENST00000683078.1:c.2069_2077+4delinsGG
ENST00000683223.1:c.2046_2054+4delinsGG
ENST00000683238.1:n.3538_3546+4delinsGG
ENST00000683249.1:n.3911_3919+4delinsGG
ENST00000683336.1:c.2135_2143+4delinsGG
ENST00000683362.1:c.1975_1983+4delinsGG
ENST00000683850.1:n.2237_2245+4delinsGG
ENST00000683919.1:c.2244_2252+4delinsGG
ENST00000683953.1:c.2225_2233+4delinsGG
ENST00000684023.1:c.2291_2299+4delinsGG
ENST00000684064.1:c.2005_2013+4delinsGG
ENST00000684089.1:n.3864_3872+4delinsGG
ENST00000684149.1:c.*1493_*1501+4delinsGG
ENST00000684343.1:c.511_519+4delinsGG
ENST00000684416.1:n.2273_2281+4delinsGG
ENST00000684540.1:c.2244_2252+4delinsGG
ENST00000453321.8:c.2314_2322+4delinsGG
ENST00000323130.7:c.2284_2292+4delinsGG
ENST00000409623.7:c.2071_2079+4delinsGG
ENST00000453321.7:c.2314_2322+4delinsGG
ENST00000474944.5:n.1452_1460+4delinsGG
ENST00000519845.5:n.1046_1054+4delinsGG
NM_001142301.1:c.2071_2079+4delinsGG , LRG_688t2:c.2071_2079+4delinsGG
NM_153704.5:c.2314_2322+4delinsGG , LRG_688t1:c.2314_2322+4delinsGG
NR_024522.1:n.2385_2393+4delinsGG
XM_006716686.2:c.2011_2019+4delinsGG
XM_006716687.2:c.1714_1722+4delinsGG
XM_011517363.1:c.1432_1440+4delinsGG
XR_428387.1:n.2372_2380+4delinsGG
XR_928360.1:n.2372_2380+4delinsGG
XR_928361.1:n.2372_2380+4delinsGG
XR_928362.1:n.2372_2380+4delinsGG
XM_006716686.4:c.2011_2019+4delinsGG
XM_011517363.3:c.1432_1440+4delinsGG
XM_024447326.1:c.1660_1668+4delinsGG
XR_001745619.2:n.2355_2363+4delinsGG
XR_428387.2:n.2355_2363+4delinsGG
XR_928360.3:n.2355_2363+4delinsGG
XR_928362.3:n.2355_2363+4delinsGG
NM_153704.6:c.2314_2322+4delinsGG
NR_024522.2:n.2335_2343+4delinsGG