Canonical Allele Identifier: CA1803221132

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780589_93780590delinsGT , CM000670.2:g.93780589_93780590delinsGT	GRCh38
NC_000008.10:g.94792817_94792818delinsGT , CM000670.1:g.94792817_94792818delinsGT	GRCh37
NC_000008.9:g.94861993_94861994delinsGT	NCBI36
NG_009190.1:g.30746_30747delinsGT , LRG_688:g.30746_30747delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.715-4_715-3delinsGT	ENSP00000314488.4:n.715-4_715-3delinsGT
ENST00000409623.8:c.715-4_715-3delinsGT	ENSP00000386966.4:n.715-4_715-3delinsGT
ENST00000452276.6:c.715-4_715-3delinsGT	ENSP00000388671.2:n.715-4_715-3delinsGT
ENST00000453906.6:c.407-5634_407-5633delinsGT	ENSP00000403035.2:n.407-5634_407-5633delinsGT
ENST00000520680.2:c.715-4_715-3delinsGT	ENSP00000428785.2:n.715-4_715-3delinsGT
ENST00000521065.2:c.*432-4_*432-3delinsGT	ENSP00000427947.2:n.*432-4_*432-3delinsGT
ENST00000521517.6:c.715-4_715-3delinsGT	ENSP00000430740.2:n.715-4_715-3delinsGT
ENST00000681998.1:c.645-4_645-3delinsGT	ENSP00000506773.1:n.645-4_645-3delinsGT
ENST00000682036.1:c.407-5634_407-5633delinsGT	ENSP00000508390.1:n.407-5634_407-5633delinsGT
ENST00000682577.1:c.645-4_645-3delinsGT	ENSP00000506963.1:n.645-4_645-3delinsGT
ENST00000682624.1:c.*289-4_*289-3delinsGT	ENSP00000508343.1:n.*289-4_*289-3delinsGT
ENST00000682700.1:c.715-4_715-3delinsGT	ENSP00000507627.1:n.715-4_715-3delinsGT
ENST00000682744.1:n.249_250delinsGT
ENST00000682804.1:n.538-4_538-3delinsGT
ENST00000682837.1:c.470-4_470-3delinsGT	ENSP00000507920.1:n.470-4_470-3delinsGT
ENST00000682935.1:n.2275-4_2275-3delinsGT
ENST00000682984.1:c.376-4_376-3delinsGT	ENSP00000507209.1:n.376-4_376-3delinsGT
ENST00000683078.1:c.470-4_470-3delinsGT	ENSP00000506796.1:n.470-4_470-3delinsGT
ENST00000683223.1:c.556-4_556-3delinsGT	ENSP00000507685.1:n.556-4_556-3delinsGT
ENST00000683238.1:n.2096-4_2096-3delinsGT
ENST00000683249.1:n.2296-4_2296-3delinsGT
ENST00000683336.1:c.645-4_645-3delinsGT	ENSP00000507695.1:n.645-4_645-3delinsGT
ENST00000683362.1:c.376-4_376-3delinsGT	ENSP00000506985.1:n.376-4_376-3delinsGT
ENST00000683850.1:n.638-4_638-3delinsGT
ENST00000683919.1:c.645-4_645-3delinsGT	ENSP00000507617.1:n.645-4_645-3delinsGT
ENST00000683953.1:c.626-4_626-3delinsGT	ENSP00000508375.1:n.626-4_626-3delinsGT
ENST00000684023.1:c.849-4_849-3delinsGT	ENSP00000507461.1:n.849-4_849-3delinsGT
ENST00000684064.1:c.406-4_406-3delinsGT	ENSP00000508192.1:n.406-4_406-3delinsGT
ENST00000684089.1:n.2265-4_2265-3delinsGT
ENST00000684149.1:c.*51-4_*51-3delinsGT	ENSP00000507943.1:n.*51-4_*51-3delinsGT
ENST00000684416.1:n.674-4_674-3delinsGT
ENST00000684540.1:c.645-4_645-3delinsGT	ENSP00000507987.1:n.645-4_645-3delinsGT
ENST00000453321.8:c.715-4_715-3delinsGT MANE Select	ENSP00000389998.3:n.715-4_715-3delinsGT
ENST00000323130.7:c.685-4_685-3delinsGT	ENSP00000314488.3:n.685-4_685-3delinsGT
ENST00000409623.7:c.472-4_472-3delinsGT	ENSP00000386966.3:n.472-4_472-3delinsGT
ENST00000425545.2:n.162-4_162-3delinsGT
ENST00000452276.5:c.406-4_406-3delinsGT	ENSP00000388671.1:n.406-4_406-3delinsGT
ENST00000453321.7:c.715-4_715-3delinsGT	ENSP00000389998.3:n.715-4_715-3delinsGT
ENST00000453906.5:c.407-5634_407-5633delinsGT	ENSP00000403035.1:n.407-5634_407-5633delinsGT
ENST00000474944.5:n.427-5634_427-5633delinsGT
ENST00000496213.5:n.180-4_180-3delinsGT
NM_001142301.1:c.472-4_472-3delinsGT , LRG_688t2:c.472-4_472-3delinsGT	NP_001135773.1:n.472-4_472-3delinsGT
NM_153704.5:c.715-4_715-3delinsGT , LRG_688t1:c.715-4_715-3delinsGT	NP_714915.3:n.715-4_715-3delinsGT
NR_024522.1:n.786-4_786-3delinsGT
XM_006716686.2:c.412-4_412-3delinsGT	XP_006716749.1:n.412-4_412-3delinsGT
XM_006716687.2:c.115-4_115-3delinsGT	XP_006716750.1:n.115-4_115-3delinsGT
XM_011517363.1:c.407-5634_407-5633delinsGT	XP_011515665.1:n.407-5634_407-5633delinsGT
XR_428387.1:n.773-4_773-3delinsGT
XR_928360.1:n.773-4_773-3delinsGT
XR_928361.1:n.773-4_773-3delinsGT
XR_928362.1:n.773-4_773-3delinsGT
XM_006716686.4:c.412-4_412-3delinsGT	XP_006716749.1:n.412-4_412-3delinsGT
XM_011517363.3:c.407-5634_407-5633delinsGT	XP_011515665.1:n.407-5634_407-5633delinsGT
XM_024447326.1:c.61-4_61-3delinsGT	XP_024303094.1:n.61-4_61-3delinsGT
XR_001745619.2:n.756-4_756-3delinsGT
XR_428387.2:n.756-4_756-3delinsGT
XR_928360.3:n.756-4_756-3delinsGT
XR_928362.3:n.756-4_756-3delinsGT
NM_153704.6:c.715-4_715-3delinsGT MANE Select	NP_714915.3:n.715-4_715-3delinsGT
NR_024522.2:n.736-4_736-3delinsGT