Canonical Allele Identifier: CA2781323309

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758730_93758740del , CM000670.2:g.93758730_93758740del	GRCh38
NC_000008.10:g.94770958_94770968del , CM000670.1:g.94770958_94770968del	GRCh37
NC_000008.9:g.94840134_94840144del	NCBI36
NG_009190.1:g.8887_8897del , LRG_688:g.8887_8897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+154_406+164del	ENSP00000314488.4:n.406+154_406+164del
ENST00000409623.8:c.406+154_406+164del	ENSP00000386966.4:n.406+154_406+164del
ENST00000452276.6:c.406+154_406+164del	ENSP00000388671.2:n.406+154_406+164del
ENST00000453906.6:c.406+154_406+164del	ENSP00000403035.2:n.406+154_406+164del
ENST00000520680.2:c.406+154_406+164del	ENSP00000428785.2:n.406+154_406+164del
ENST00000521065.2:c.406+154_406+164del	ENSP00000427947.2:n.406+154_406+164del
ENST00000521517.6:c.406+154_406+164del	ENSP00000430740.2:n.406+154_406+164del
ENST00000681998.1:c.406+154_406+164del	ENSP00000506773.1:n.406+154_406+164del
ENST00000682036.1:c.406+154_406+164del	ENSP00000508390.1:n.406+154_406+164del
ENST00000682577.1:c.406+154_406+164del	ENSP00000506963.1:n.406+154_406+164del
ENST00000682624.1:c.*50+154_*50+164del	ENSP00000508343.1:n.*50+154_*50+164del
ENST00000682700.1:c.406+154_406+164del	ENSP00000507627.1:n.406+154_406+164del
ENST00000682804.1:n.299+154_299+164del
ENST00000682837.1:c.406+154_406+164del	ENSP00000507920.1:n.406+154_406+164del
ENST00000682935.1:n.406+154_406+164del
ENST00000682984.1:c.312+2864_312+2874del	ENSP00000507209.1:n.312+2864_312+2874del
ENST00000683078.1:c.406+154_406+164del	ENSP00000506796.1:n.406+154_406+164del
ENST00000683223.1:c.317+154_317+164del	ENSP00000507685.1:n.317+154_317+164del
ENST00000683238.1:n.227+154_227+164del
ENST00000683249.1:n.427+154_427+164del
ENST00000683336.1:c.406+154_406+164del	ENSP00000507695.1:n.406+154_406+164del
ENST00000683362.1:c.312+2864_312+2874del	ENSP00000506985.1:n.312+2864_312+2874del
ENST00000683850.1:n.329+154_329+164del
ENST00000683919.1:c.406+154_406+164del	ENSP00000507617.1:n.406+154_406+164del
ENST00000683953.1:c.317+154_317+164del	ENSP00000508375.1:n.317+154_317+164del
ENST00000684023.1:c.406+154_406+164del	ENSP00000507461.1:n.406+154_406+164del
ENST00000684064.1:c.97+154_97+164del	ENSP00000508192.1:n.97+154_97+164del
ENST00000684089.1:n.396+154_396+164del
ENST00000684149.1:c.406+154_406+164del	ENSP00000507943.1:n.406+154_406+164del
ENST00000684416.1:n.231+154_231+164del
ENST00000684540.1:c.406+154_406+164del	ENSP00000507987.1:n.406+154_406+164del
ENST00000684733.1:n.495_505del
ENST00000453321.8:c.406+154_406+164del MANE Select	ENSP00000389998.3:n.406+154_406+164del
ENST00000323130.7:c.376+154_376+164del	ENSP00000314488.3:n.376+154_376+164del
ENST00000409623.7:c.29+154_29+164del	ENSP00000386966.3:n.29+154_29+164del
ENST00000452276.5:c.97+154_97+164del	ENSP00000388671.1:n.97+154_97+164del
ENST00000453321.7:c.406+154_406+164del	ENSP00000389998.3:n.406+154_406+164del
ENST00000453906.5:c.406+154_406+164del	ENSP00000403035.1:n.406+154_406+164del
ENST00000455946.5:c.406+154_406+164del	ENSP00000416339.1:n.406+154_406+164del
ENST00000474944.5:n.426+154_426+164del
ENST00000475305.1:n.569_579del
ENST00000498673.5:c.-75+154_-75+164del	ENSP00000430232.1:n.-75+154_-75+164del
ENST00000518319.5:c.-114+154_-114+164del	ENSP00000430289.1:n.-114+154_-114+164del
ENST00000521065.1:c.312+154_312+164del
ENST00000521222.5:c.*42+154_*42+164del	ENSP00000429925.1:n.*42+154_*42+164del
ENST00000521517.5:c.398+154_398+164del
NM_001142301.1:c.29+154_29+164del , LRG_688t2:c.29+154_29+164del	NP_001135773.1:n.29+154_29+164del
NM_153704.5:c.406+154_406+164del , LRG_688t1:c.406+154_406+164del	NP_714915.3:n.406+154_406+164del
NR_024522.1:n.477+154_477+164del
XM_006716686.2:c.103+154_103+164del	XP_006716749.1:n.103+154_103+164del
XM_011517363.1:c.406+154_406+164del	XP_011515665.1:n.406+154_406+164del
XR_428387.1:n.464+154_464+164del
XR_928360.1:n.464+154_464+164del
XR_928361.1:n.464+154_464+164del
XR_928362.1:n.464+154_464+164del
XM_006716686.4:c.103+154_103+164del	XP_006716749.1:n.103+154_103+164del
XM_011517363.3:c.406+154_406+164del	XP_011515665.1:n.406+154_406+164del
XM_024447326.1:c.-4+154_-4+164del	XP_024303094.1:n.-4+154_-4+164del
XR_001745619.2:n.447+154_447+164del
XR_428387.2:n.447+154_447+164del
XR_928360.3:n.447+154_447+164del
XR_928362.3:n.447+154_447+164del
NM_153704.6:c.406+154_406+164del MANE Select	NP_714915.3:n.406+154_406+164del
NR_024522.2:n.427+154_427+164del