Canonical Allele Identifier: CA2781323300

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758719_93758723del , CM000670.2:g.93758719_93758723del	GRCh38
NC_000008.10:g.94770947_94770951del , CM000670.1:g.94770947_94770951del	GRCh37
NC_000008.9:g.94840123_94840127del	NCBI36
NG_009190.1:g.8876_8880del , LRG_688:g.8876_8880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+143_406+147del	ENSP00000314488.4:n.406+143_406+147del
ENST00000409623.8:c.406+143_406+147del	ENSP00000386966.4:n.406+143_406+147del
ENST00000452276.6:c.406+143_406+147del	ENSP00000388671.2:n.406+143_406+147del
ENST00000453906.6:c.406+143_406+147del	ENSP00000403035.2:n.406+143_406+147del
ENST00000520680.2:c.406+143_406+147del	ENSP00000428785.2:n.406+143_406+147del
ENST00000521065.2:c.406+143_406+147del	ENSP00000427947.2:n.406+143_406+147del
ENST00000521517.6:c.406+143_406+147del	ENSP00000430740.2:n.406+143_406+147del
ENST00000681998.1:c.406+143_406+147del	ENSP00000506773.1:n.406+143_406+147del
ENST00000682036.1:c.406+143_406+147del	ENSP00000508390.1:n.406+143_406+147del
ENST00000682577.1:c.406+143_406+147del	ENSP00000506963.1:n.406+143_406+147del
ENST00000682624.1:c.*50+143_*50+147del	ENSP00000508343.1:n.*50+143_*50+147del
ENST00000682700.1:c.406+143_406+147del	ENSP00000507627.1:n.406+143_406+147del
ENST00000682804.1:n.299+143_299+147del
ENST00000682837.1:c.406+143_406+147del	ENSP00000507920.1:n.406+143_406+147del
ENST00000682935.1:n.406+143_406+147del
ENST00000682984.1:c.312+2853_312+2857del	ENSP00000507209.1:n.312+2853_312+2857del
ENST00000683078.1:c.406+143_406+147del	ENSP00000506796.1:n.406+143_406+147del
ENST00000683223.1:c.317+143_317+147del	ENSP00000507685.1:n.317+143_317+147del
ENST00000683238.1:n.227+143_227+147del
ENST00000683249.1:n.427+143_427+147del
ENST00000683336.1:c.406+143_406+147del	ENSP00000507695.1:n.406+143_406+147del
ENST00000683362.1:c.312+2853_312+2857del	ENSP00000506985.1:n.312+2853_312+2857del
ENST00000683850.1:n.329+143_329+147del
ENST00000683919.1:c.406+143_406+147del	ENSP00000507617.1:n.406+143_406+147del
ENST00000683953.1:c.317+143_317+147del	ENSP00000508375.1:n.317+143_317+147del
ENST00000684023.1:c.406+143_406+147del	ENSP00000507461.1:n.406+143_406+147del
ENST00000684064.1:c.97+143_97+147del	ENSP00000508192.1:n.97+143_97+147del
ENST00000684089.1:n.396+143_396+147del
ENST00000684149.1:c.406+143_406+147del	ENSP00000507943.1:n.406+143_406+147del
ENST00000684416.1:n.231+143_231+147del
ENST00000684540.1:c.406+143_406+147del	ENSP00000507987.1:n.406+143_406+147del
ENST00000684733.1:n.484_488del
ENST00000453321.8:c.406+143_406+147del MANE Select	ENSP00000389998.3:n.406+143_406+147del
ENST00000323130.7:c.376+143_376+147del	ENSP00000314488.3:n.376+143_376+147del
ENST00000409623.7:c.29+143_29+147del	ENSP00000386966.3:n.29+143_29+147del
ENST00000452276.5:c.97+143_97+147del	ENSP00000388671.1:n.97+143_97+147del
ENST00000453321.7:c.406+143_406+147del	ENSP00000389998.3:n.406+143_406+147del
ENST00000453906.5:c.406+143_406+147del	ENSP00000403035.1:n.406+143_406+147del
ENST00000455946.5:c.406+143_406+147del	ENSP00000416339.1:n.406+143_406+147del
ENST00000474944.5:n.426+143_426+147del
ENST00000475305.1:n.558_562del
ENST00000498673.5:c.-75+143_-75+147del	ENSP00000430232.1:n.-75+143_-75+147del
ENST00000518319.5:c.-114+143_-114+147del	ENSP00000430289.1:n.-114+143_-114+147del
ENST00000521065.1:c.312+143_312+147del
ENST00000521222.5:c.*42+143_*42+147del	ENSP00000429925.1:n.*42+143_*42+147del
ENST00000521517.5:c.398+143_398+147del
NM_001142301.1:c.29+143_29+147del , LRG_688t2:c.29+143_29+147del	NP_001135773.1:n.29+143_29+147del
NM_153704.5:c.406+143_406+147del , LRG_688t1:c.406+143_406+147del	NP_714915.3:n.406+143_406+147del
NR_024522.1:n.477+143_477+147del
XM_006716686.2:c.103+143_103+147del	XP_006716749.1:n.103+143_103+147del
XM_011517363.1:c.406+143_406+147del	XP_011515665.1:n.406+143_406+147del
XR_428387.1:n.464+143_464+147del
XR_928360.1:n.464+143_464+147del
XR_928361.1:n.464+143_464+147del
XR_928362.1:n.464+143_464+147del
XM_006716686.4:c.103+143_103+147del	XP_006716749.1:n.103+143_103+147del
XM_011517363.3:c.406+143_406+147del	XP_011515665.1:n.406+143_406+147del
XM_024447326.1:c.-4+143_-4+147del	XP_024303094.1:n.-4+143_-4+147del
XR_001745619.2:n.447+143_447+147del
XR_428387.2:n.447+143_447+147del
XR_928360.3:n.447+143_447+147del
XR_928362.3:n.447+143_447+147del
NM_153704.6:c.406+143_406+147del MANE Select	NP_714915.3:n.406+143_406+147del
NR_024522.2:n.427+143_427+147del