Canonical Allele Identifier: CA2781324128

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780823_93780824del , CM000670.2:g.93780823_93780824del	GRCh38
NC_000008.10:g.94793051_94793052del , CM000670.1:g.94793051_94793052del	GRCh37
NC_000008.9:g.94862227_94862228del	NCBI36
NG_009190.1:g.30980_30981del , LRG_688:g.30980_30981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.870-51_870-50del	ENSP00000314488.4:n.870-51_870-50del
ENST00000409623.8:c.870-51_870-50del	ENSP00000386966.4:n.870-51_870-50del
ENST00000452276.6:c.870-51_870-50del	ENSP00000388671.2:n.870-51_870-50del
ENST00000453906.6:c.407-5400_407-5399del	ENSP00000403035.2:n.407-5400_407-5399del
ENST00000520680.2:c.870-51_870-50del	ENSP00000428785.2:n.870-51_870-50del
ENST00000521065.2:c.*587-51_*587-50del	ENSP00000427947.2:n.*587-51_*587-50del
ENST00000521517.6:c.870-51_870-50del	ENSP00000430740.2:n.870-51_870-50del
ENST00000681998.1:c.799+76_799+77del	ENSP00000506773.1:n.799+76_799+77del
ENST00000682036.1:c.407-5400_407-5399del	ENSP00000508390.1:n.407-5400_407-5399del
ENST00000682577.1:c.800-51_800-50del	ENSP00000506963.1:n.800-51_800-50del
ENST00000682624.1:c.*444-51_*444-50del	ENSP00000508343.1:n.*444-51_*444-50del
ENST00000682700.1:c.870-51_870-50del	ENSP00000507627.1:n.870-51_870-50del
ENST00000682744.1:n.408-51_408-50del
ENST00000682804.1:n.693-51_693-50del
ENST00000682837.1:c.624+76_624+77del	ENSP00000507920.1:n.624+76_624+77del
ENST00000682935.1:n.2430-51_2430-50del
ENST00000682984.1:c.531-51_531-50del	ENSP00000507209.1:n.531-51_531-50del
ENST00000683078.1:c.625-51_625-50del	ENSP00000506796.1:n.625-51_625-50del
ENST00000683223.1:c.710+76_710+77del	ENSP00000507685.1:n.710+76_710+77del
ENST00000683238.1:n.2251-51_2251-50del
ENST00000683249.1:n.2451-35_2451-34del
ENST00000683336.1:c.799+76_799+77del	ENSP00000507695.1:n.799+76_799+77del
ENST00000683362.1:c.531-51_531-50del	ENSP00000506985.1:n.531-51_531-50del
ENST00000683850.1:n.793-51_793-50del
ENST00000683919.1:c.800-51_800-50del	ENSP00000507617.1:n.800-51_800-50del
ENST00000683953.1:c.781-51_781-50del	ENSP00000508375.1:n.781-51_781-50del
ENST00000684023.1:c.1004-51_1004-50del	ENSP00000507461.1:n.1004-51_1004-50del
ENST00000684064.1:c.561-51_561-50del	ENSP00000508192.1:n.561-51_561-50del
ENST00000684089.1:n.2420-51_2420-50del
ENST00000684149.1:c.*206-51_*206-50del	ENSP00000507943.1:n.*206-51_*206-50del
ENST00000684416.1:n.829-51_829-50del
ENST00000684540.1:c.800-51_800-50del	ENSP00000507987.1:n.800-51_800-50del
ENST00000453321.8:c.870-51_870-50del MANE Select	ENSP00000389998.3:n.870-51_870-50del
ENST00000323130.7:c.840-51_840-50del	ENSP00000314488.3:n.840-51_840-50del
ENST00000409623.7:c.627-51_627-50del	ENSP00000386966.3:n.627-51_627-50del
ENST00000425545.2:n.317-51_317-50del
ENST00000452276.5:c.561-51_561-50del	ENSP00000388671.1:n.561-51_561-50del
ENST00000453321.7:c.870-51_870-50del	ENSP00000389998.3:n.870-51_870-50del
ENST00000453906.5:c.407-5400_407-5399del	ENSP00000403035.1:n.407-5400_407-5399del
ENST00000474944.5:n.427-5400_427-5399del
ENST00000496213.5:n.335-51_335-50del
NM_001142301.1:c.627-51_627-50del , LRG_688t2:c.627-51_627-50del	NP_001135773.1:n.627-51_627-50del
NM_153704.5:c.870-51_870-50del , LRG_688t1:c.870-51_870-50del	NP_714915.3:n.870-51_870-50del
NR_024522.1:n.941-51_941-50del
XM_006716686.2:c.567-51_567-50del	XP_006716749.1:n.567-51_567-50del
XM_006716687.2:c.270-51_270-50del	XP_006716750.1:n.270-51_270-50del
XM_011517363.1:c.407-5400_407-5399del	XP_011515665.1:n.407-5400_407-5399del
XR_428387.1:n.928-51_928-50del
XR_928360.1:n.928-51_928-50del
XR_928361.1:n.928-51_928-50del
XR_928362.1:n.928-51_928-50del
XM_006716686.4:c.567-51_567-50del	XP_006716749.1:n.567-51_567-50del
XM_011517363.3:c.407-5400_407-5399del	XP_011515665.1:n.407-5400_407-5399del
XM_024447326.1:c.216-51_216-50del	XP_024303094.1:n.216-51_216-50del
XR_001745619.2:n.911-51_911-50del
XR_428387.2:n.911-51_911-50del
XR_928360.3:n.911-51_911-50del
XR_928362.3:n.911-51_911-50del
NM_153704.6:c.870-51_870-50del MANE Select	NP_714915.3:n.870-51_870-50del
NR_024522.2:n.891-51_891-50del