Canonical Allele Identifier: CA2781326122

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808833_93808868del , CM000670.2:g.93808833_93808868del	GRCh38
NC_000008.10:g.94821061_94821096del , CM000670.1:g.94821061_94821096del	GRCh37
NC_000008.9:g.94890237_94890272del	NCBI36
NG_009190.1:g.58990_59025del , LRG_688:g.58990_59025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2440-7_2468del
ENST00000409623.8:c.2395-7_2423del
ENST00000452276.6:c.2323-7_2351del
ENST00000453906.6:c.1558-7_1586del
ENST00000518896.2:c.731-7_759del
ENST00000520680.2:c.2563-7_2591del
ENST00000521517.6:c.2341-7_2369del
ENST00000681998.1:c.2261-7_2289del
ENST00000682036.1:c.1681-7_1709del
ENST00000682577.1:c.2213-7_2241del
ENST00000682624.1:c.*2014-7_*2042del
ENST00000682700.1:c.2440-7_2468del
ENST00000682744.1:n.1978-7_2006del
ENST00000682804.1:n.2263-7_2291del
ENST00000682837.1:c.1929-7_1957del
ENST00000682935.1:n.4490-7_4518del
ENST00000682984.1:c.2101-7_2129del
ENST00000683078.1:c.2195-7_2223del
ENST00000683223.1:c.2172-7_2200del
ENST00000683238.1:n.3664-7_3692del
ENST00000683249.1:n.4037-7_4065del
ENST00000683336.1:c.2261-7_2289del
ENST00000683362.1:c.2101-7_2129del
ENST00000683850.1:n.2363-7_2391del
ENST00000683919.1:c.2370-7_2398del
ENST00000683953.1:c.2351-7_2379del
ENST00000684023.1:c.2417-7_2445del
ENST00000684064.1:c.2131-7_2159del
ENST00000684089.1:n.3990-7_4018del
ENST00000684149.1:c.*1619-7_*1647del
ENST00000684343.1:c.637-7_665del
ENST00000684416.1:n.2399-7_2427del
ENST00000684540.1:c.2370-7_2398del
ENST00000453321.8:c.2440-7_2468del
ENST00000323130.7:c.2410-7_2438del
ENST00000409623.7:c.2197-7_2225del
ENST00000453321.7:c.2440-7_2468del
ENST00000474944.5:n.1578-7_1606del
ENST00000519845.5:n.1172-7_1200del
NM_001142301.1:c.2197-7_2225del , LRG_688t2:c.2197-7_2225del
NM_153704.5:c.2440-7_2468del , LRG_688t1:c.2440-7_2468del
NR_024522.1:n.2511-7_2539del
XM_006716686.2:c.2137-7_2165del
XM_006716687.2:c.1840-7_1868del
XM_011517363.1:c.1558-7_1586del
XR_428387.1:n.2498-7_2526del
XR_928360.1:n.2498-7_2526del
XR_928361.1:n.2498-7_2526del
XR_928362.1:n.2498-7_2526del
XM_006716686.4:c.2137-7_2165del
XM_011517363.3:c.1558-7_1586del
XM_024447326.1:c.1786-7_1814del
XR_001745619.2:n.2481-7_2509del
XR_428387.2:n.2481-7_2509del
XR_928360.3:n.2481-7_2509del
XR_928362.3:n.2481-7_2509del
NM_153704.6:c.2440-7_2468del
NR_024522.2:n.2461-7_2489del