Canonical Allele Identifier: CA2781324114

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780802_93780811del , CM000670.2:g.93780802_93780811del	GRCh38
NC_000008.10:g.94793030_94793039del , CM000670.1:g.94793030_94793039del	GRCh37
NC_000008.9:g.94862206_94862215del	NCBI36
NG_009190.1:g.30959_30968del , LRG_688:g.30959_30968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+55_870-63del	ENSP00000314488.4:n.869+55_870-63del
ENST00000409623.8:c.869+55_870-63del	ENSP00000386966.4:n.869+55_870-63del
ENST00000452276.6:c.869+55_870-63del	ENSP00000388671.2:n.869+55_870-63del
ENST00000453906.6:c.407-5421_407-5412del	ENSP00000403035.2:n.407-5421_407-5412del
ENST00000520680.2:c.869+55_870-63del	ENSP00000428785.2:n.869+55_870-63del
ENST00000521065.2:c.*586+55_*587-63del	ENSP00000427947.2:n.*586+55_*587-63del
ENST00000521517.6:c.869+55_870-63del	ENSP00000430740.2:n.869+55_870-63del
ENST00000681998.1:c.799+55_799+64del	ENSP00000506773.1:n.799+55_799+64del
ENST00000682036.1:c.407-5421_407-5412del	ENSP00000508390.1:n.407-5421_407-5412del
ENST00000682577.1:c.799+55_800-63del	ENSP00000506963.1:n.799+55_800-63del
ENST00000682624.1:c.*443+55_*444-63del	ENSP00000508343.1:n.*443+55_*444-63del
ENST00000682700.1:c.869+55_870-63del	ENSP00000507627.1:n.869+55_870-63del
ENST00000682744.1:n.407+55_408-63del
ENST00000682804.1:n.692+55_693-63del
ENST00000682837.1:c.624+55_624+64del	ENSP00000507920.1:n.624+55_624+64del
ENST00000682935.1:n.2429+55_2430-63del
ENST00000682984.1:c.530+55_531-63del	ENSP00000507209.1:n.530+55_531-63del
ENST00000683078.1:c.624+55_625-63del	ENSP00000506796.1:n.624+55_625-63del
ENST00000683223.1:c.710+55_710+64del	ENSP00000507685.1:n.710+55_710+64del
ENST00000683238.1:n.2250+55_2251-63del
ENST00000683249.1:n.2451-56_2451-47del
ENST00000683336.1:c.799+55_799+64del	ENSP00000507695.1:n.799+55_799+64del
ENST00000683362.1:c.530+55_531-63del	ENSP00000506985.1:n.530+55_531-63del
ENST00000683850.1:n.792+55_793-63del
ENST00000683919.1:c.799+55_800-63del	ENSP00000507617.1:n.799+55_800-63del
ENST00000683953.1:c.780+55_781-63del	ENSP00000508375.1:n.780+55_781-63del
ENST00000684023.1:c.1003+55_1004-63del	ENSP00000507461.1:n.1003+55_1004-63del
ENST00000684064.1:c.560+55_561-63del	ENSP00000508192.1:n.560+55_561-63del
ENST00000684089.1:n.2419+55_2420-63del
ENST00000684149.1:c.*205+55_*206-63del	ENSP00000507943.1:n.*205+55_*206-63del
ENST00000684416.1:n.828+55_829-63del
ENST00000684540.1:c.799+55_800-63del	ENSP00000507987.1:n.799+55_800-63del
ENST00000453321.8:c.869+55_870-63del MANE Select	ENSP00000389998.3:n.869+55_870-63del
ENST00000323130.7:c.839+55_840-63del	ENSP00000314488.3:n.839+55_840-63del
ENST00000409623.7:c.626+55_627-63del	ENSP00000386966.3:n.626+55_627-63del
ENST00000425545.2:n.316+55_317-63del
ENST00000452276.5:c.560+55_561-63del	ENSP00000388671.1:n.560+55_561-63del
ENST00000453321.7:c.869+55_870-63del	ENSP00000389998.3:n.869+55_870-63del
ENST00000453906.5:c.407-5421_407-5412del	ENSP00000403035.1:n.407-5421_407-5412del
ENST00000474944.5:n.427-5421_427-5412del
ENST00000496213.5:n.334+55_335-63del
NM_001142301.1:c.626+55_627-63del , LRG_688t2:c.626+55_627-63del	NP_001135773.1:n.626+55_627-63del
NM_153704.5:c.869+55_870-63del , LRG_688t1:c.869+55_870-63del	NP_714915.3:n.869+55_870-63del
NR_024522.1:n.940+55_941-63del
XM_006716686.2:c.566+55_567-63del	XP_006716749.1:n.566+55_567-63del
XM_006716687.2:c.269+55_270-63del	XP_006716750.1:n.269+55_270-63del
XM_011517363.1:c.407-5421_407-5412del	XP_011515665.1:n.407-5421_407-5412del
XR_428387.1:n.927+55_928-63del
XR_928360.1:n.927+55_928-63del
XR_928361.1:n.927+55_928-63del
XR_928362.1:n.927+55_928-63del
XM_006716686.4:c.566+55_567-63del	XP_006716749.1:n.566+55_567-63del
XM_011517363.3:c.407-5421_407-5412del	XP_011515665.1:n.407-5421_407-5412del
XM_024447326.1:c.215+55_216-63del	XP_024303094.1:n.215+55_216-63del
XR_001745619.2:n.910+55_911-63del
XR_428387.2:n.910+55_911-63del
XR_928360.3:n.910+55_911-63del
XR_928362.3:n.910+55_911-63del
NM_153704.6:c.869+55_870-63del MANE Select	NP_714915.3:n.869+55_870-63del
NR_024522.2:n.890+55_891-63del