Canonical Allele Identifier: CA1803221027

Gene: TMEM67

Linked Data

• dbSNP Id: rs1813767588

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780500_93780503del , CM000670.2:g.93780500_93780503del	GRCh38
NC_000008.10:g.94792728_94792731del , CM000670.1:g.94792728_94792731del	GRCh37
NC_000008.9:g.94861904_94861907del	NCBI36
NG_009190.1:g.30657_30660del , LRG_688:g.30657_30660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.715-93_715-90del	ENSP00000314488.4:n.715-93_715-90del
ENST00000409623.8:c.715-93_715-90del	ENSP00000386966.4:n.715-93_715-90del
ENST00000452276.6:c.715-93_715-90del	ENSP00000388671.2:n.715-93_715-90del
ENST00000453906.6:c.407-5723_407-5720del	ENSP00000403035.2:n.407-5723_407-5720del
ENST00000520680.2:c.715-93_715-90del	ENSP00000428785.2:n.715-93_715-90del
ENST00000521065.2:c.*432-93_*432-90del	ENSP00000427947.2:n.*432-93_*432-90del
ENST00000521517.6:c.715-93_715-90del	ENSP00000430740.2:n.715-93_715-90del
ENST00000681998.1:c.645-93_645-90del	ENSP00000506773.1:n.645-93_645-90del
ENST00000682036.1:c.407-5723_407-5720del	ENSP00000508390.1:n.407-5723_407-5720del
ENST00000682577.1:c.645-93_645-90del	ENSP00000506963.1:n.645-93_645-90del
ENST00000682624.1:c.*289-93_*289-90del	ENSP00000508343.1:n.*289-93_*289-90del
ENST00000682700.1:c.715-93_715-90del	ENSP00000507627.1:n.715-93_715-90del
ENST00000682744.1:n.160_163del
ENST00000682804.1:n.538-93_538-90del
ENST00000682837.1:c.470-93_470-90del	ENSP00000507920.1:n.470-93_470-90del
ENST00000682935.1:n.2275-93_2275-90del
ENST00000682984.1:c.376-93_376-90del	ENSP00000507209.1:n.376-93_376-90del
ENST00000683078.1:c.470-93_470-90del	ENSP00000506796.1:n.470-93_470-90del
ENST00000683223.1:c.556-93_556-90del	ENSP00000507685.1:n.556-93_556-90del
ENST00000683238.1:n.2096-93_2096-90del
ENST00000683249.1:n.2296-93_2296-90del
ENST00000683336.1:c.645-93_645-90del	ENSP00000507695.1:n.645-93_645-90del
ENST00000683362.1:c.376-93_376-90del	ENSP00000506985.1:n.376-93_376-90del
ENST00000683850.1:n.638-93_638-90del
ENST00000683919.1:c.645-93_645-90del	ENSP00000507617.1:n.645-93_645-90del
ENST00000683953.1:c.626-93_626-90del	ENSP00000508375.1:n.626-93_626-90del
ENST00000684023.1:c.849-93_849-90del	ENSP00000507461.1:n.849-93_849-90del
ENST00000684064.1:c.406-93_406-90del	ENSP00000508192.1:n.406-93_406-90del
ENST00000684089.1:n.2265-93_2265-90del
ENST00000684149.1:c.*51-93_*51-90del	ENSP00000507943.1:n.*51-93_*51-90del
ENST00000684416.1:n.674-93_674-90del
ENST00000684540.1:c.645-93_645-90del	ENSP00000507987.1:n.645-93_645-90del
ENST00000453321.8:c.715-93_715-90del MANE Select	ENSP00000389998.3:n.715-93_715-90del
ENST00000323130.7:c.685-93_685-90del	ENSP00000314488.3:n.685-93_685-90del
ENST00000409623.7:c.472-93_472-90del	ENSP00000386966.3:n.472-93_472-90del
ENST00000425545.2:n.162-93_162-90del
ENST00000452276.5:c.406-93_406-90del	ENSP00000388671.1:n.406-93_406-90del
ENST00000453321.7:c.715-93_715-90del	ENSP00000389998.3:n.715-93_715-90del
ENST00000453906.5:c.407-5723_407-5720del	ENSP00000403035.1:n.407-5723_407-5720del
ENST00000474944.5:n.427-5723_427-5720del
ENST00000496213.5:n.180-93_180-90del
NM_001142301.1:c.472-93_472-90del , LRG_688t2:c.472-93_472-90del	NP_001135773.1:n.472-93_472-90del
NM_153704.5:c.715-93_715-90del , LRG_688t1:c.715-93_715-90del	NP_714915.3:n.715-93_715-90del
NR_024522.1:n.786-93_786-90del
XM_006716686.2:c.412-93_412-90del	XP_006716749.1:n.412-93_412-90del
XM_006716687.2:c.115-93_115-90del	XP_006716750.1:n.115-93_115-90del
XM_011517363.1:c.407-5723_407-5720del	XP_011515665.1:n.407-5723_407-5720del
XR_428387.1:n.773-93_773-90del
XR_928360.1:n.773-93_773-90del
XR_928361.1:n.773-93_773-90del
XR_928362.1:n.773-93_773-90del
XM_006716686.4:c.412-93_412-90del	XP_006716749.1:n.412-93_412-90del
XM_011517363.3:c.407-5723_407-5720del	XP_011515665.1:n.407-5723_407-5720del
XM_024447326.1:c.61-93_61-90del	XP_024303094.1:n.61-93_61-90del
XR_001745619.2:n.756-93_756-90del
XR_428387.2:n.756-93_756-90del
XR_928360.3:n.756-93_756-90del
XR_928362.3:n.756-93_756-90del
NM_153704.6:c.715-93_715-90del MANE Select	NP_714915.3:n.715-93_715-90del
NR_024522.2:n.736-93_736-90del