Canonical Allele Identifier: CA2781323329

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758922_93758923insGCAGTGGTG , CM000670.2:g.93758922_93758923insGCAGTGGTG	GRCh38
NC_000008.10:g.94771150_94771151insGCAGTGGTG , CM000670.1:g.94771150_94771151insGCAGTGGTG	GRCh37
NC_000008.9:g.94840326_94840327insGCAGTGGTG	NCBI36
NG_009190.1:g.9079_9080insGCAGTGGTG , LRG_688:g.9079_9080insGCAGTGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+346_406+347insGCAGTGGTG	ENSP00000314488.4:n.406+346_406+347insGCAGTGGTG
ENST00000409623.8:c.406+346_406+347insGCAGTGGTG	ENSP00000386966.4:n.406+346_406+347insGCAGTGGTG
ENST00000452276.6:c.406+346_406+347insGCAGTGGTG	ENSP00000388671.2:n.406+346_406+347insGCAGTGGTG
ENST00000453906.6:c.406+346_406+347insGCAGTGGTG	ENSP00000403035.2:n.406+346_406+347insGCAGTGGTG
ENST00000520680.2:c.406+346_406+347insGCAGTGGTG	ENSP00000428785.2:n.406+346_406+347insGCAGTGGTG
ENST00000521065.2:c.406+346_406+347insGCAGTGGTG	ENSP00000427947.2:n.406+346_406+347insGCAGTGGTG
ENST00000521517.6:c.406+346_406+347insGCAGTGGTG	ENSP00000430740.2:n.406+346_406+347insGCAGTGGTG
ENST00000681998.1:c.406+346_406+347insGCAGTGGTG	ENSP00000506773.1:n.406+346_406+347insGCAGTGGTG
ENST00000682036.1:c.406+346_406+347insGCAGTGGTG	ENSP00000508390.1:n.406+346_406+347insGCAGTGGTG
ENST00000682577.1:c.406+346_406+347insGCAGTGGTG	ENSP00000506963.1:n.406+346_406+347insGCAGTGGTG
ENST00000682624.1:c.*50+346_*50+347insGCAGTGGTG	ENSP00000508343.1:n.*50+346_*50+347insGCAGTGGTG
ENST00000682700.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507627.1:n.406+346_406+347insGCAGTGGTG
ENST00000682804.1:n.299+346_299+347insGCAGTGGTG
ENST00000682837.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507920.1:n.406+346_406+347insGCAGTGGTG
ENST00000682935.1:n.406+346_406+347insGCAGTGGTG
ENST00000682984.1:c.312+3056_312+3057insGCAGTGGTG	ENSP00000507209.1:n.312+3056_312+3057insGCAGTGGTG
ENST00000683078.1:c.406+346_406+347insGCAGTGGTG	ENSP00000506796.1:n.406+346_406+347insGCAGTGGTG
ENST00000683223.1:c.317+346_317+347insGCAGTGGTG	ENSP00000507685.1:n.317+346_317+347insGCAGTGGTG
ENST00000683238.1:n.227+346_227+347insGCAGTGGTG
ENST00000683249.1:n.427+346_427+347insGCAGTGGTG
ENST00000683336.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507695.1:n.406+346_406+347insGCAGTGGTG
ENST00000683362.1:c.312+3056_312+3057insGCAGTGGTG	ENSP00000506985.1:n.312+3056_312+3057insGCAGTGGTG
ENST00000683850.1:n.329+346_329+347insGCAGTGGTG
ENST00000683919.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507617.1:n.406+346_406+347insGCAGTGGTG
ENST00000683953.1:c.317+346_317+347insGCAGTGGTG	ENSP00000508375.1:n.317+346_317+347insGCAGTGGTG
ENST00000684023.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507461.1:n.406+346_406+347insGCAGTGGTG
ENST00000684064.1:c.97+346_97+347insGCAGTGGTG	ENSP00000508192.1:n.97+346_97+347insGCAGTGGTG
ENST00000684089.1:n.396+346_396+347insGCAGTGGTG
ENST00000684149.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507943.1:n.406+346_406+347insGCAGTGGTG
ENST00000684416.1:n.231+346_231+347insGCAGTGGTG
ENST00000684540.1:c.406+346_406+347insGCAGTGGTG	ENSP00000507987.1:n.406+346_406+347insGCAGTGGTG
ENST00000684733.1:n.687_688insGCAGTGGTG
ENST00000453321.8:c.406+346_406+347insGCAGTGGTG MANE Select	ENSP00000389998.3:n.406+346_406+347insGCAGTGGTG
ENST00000323130.7:c.376+346_376+347insGCAGTGGTG	ENSP00000314488.3:n.376+346_376+347insGCAGTGGTG
ENST00000409623.7:c.29+346_29+347insGCAGTGGTG	ENSP00000386966.3:n.29+346_29+347insGCAGTGGTG
ENST00000452276.5:c.97+346_97+347insGCAGTGGTG	ENSP00000388671.1:n.97+346_97+347insGCAGTGGTG
ENST00000453321.7:c.406+346_406+347insGCAGTGGTG	ENSP00000389998.3:n.406+346_406+347insGCAGTGGTG
ENST00000453906.5:c.406+346_406+347insGCAGTGGTG	ENSP00000403035.1:n.406+346_406+347insGCAGTGGTG
ENST00000455946.5:c.406+346_406+347insGCAGTGGTG	ENSP00000416339.1:n.406+346_406+347insGCAGTGGTG
ENST00000474944.5:n.426+346_426+347insGCAGTGGTG
ENST00000475305.1:n.761_762insGCAGTGGTG
ENST00000498673.5:c.-75+346_-75+347insGCAGTGGTG	ENSP00000430232.1:n.-75+346_-75+347insGCAGTGGTG
ENST00000518319.5:c.-114+346_-114+347insGCAGTGGTG	ENSP00000430289.1:n.-114+346_-114+347insGCAGTGGTG
ENST00000521065.1:c.312+346_312+347insGCAGTGGTG
ENST00000521222.5:c.*42+346_*42+347insGCAGTGGTG	ENSP00000429925.1:n.*42+346_*42+347insGCAGTGGTG
ENST00000521517.5:c.398+346_398+347insGCAGTGGTG
NM_001142301.1:c.29+346_29+347insGCAGTGGTG , LRG_688t2:c.29+346_29+347insGCAGTGGTG	NP_001135773.1:n.29+346_29+347insGCAGTGGTG
NM_153704.5:c.406+346_406+347insGCAGTGGTG , LRG_688t1:c.406+346_406+347insGCAGTGGTG	NP_714915.3:n.406+346_406+347insGCAGTGGTG
NR_024522.1:n.477+346_477+347insGCAGTGGTG
XM_006716686.2:c.103+346_103+347insGCAGTGGTG	XP_006716749.1:n.103+346_103+347insGCAGTGGTG
XM_011517363.1:c.406+346_406+347insGCAGTGGTG	XP_011515665.1:n.406+346_406+347insGCAGTGGTG
XR_428387.1:n.464+346_464+347insGCAGTGGTG
XR_928360.1:n.464+346_464+347insGCAGTGGTG
XR_928361.1:n.464+346_464+347insGCAGTGGTG
XR_928362.1:n.464+346_464+347insGCAGTGGTG
XM_006716686.4:c.103+346_103+347insGCAGTGGTG	XP_006716749.1:n.103+346_103+347insGCAGTGGTG
XM_011517363.3:c.406+346_406+347insGCAGTGGTG	XP_011515665.1:n.406+346_406+347insGCAGTGGTG
XM_024447326.1:c.-4+346_-4+347insGCAGTGGTG	XP_024303094.1:n.-4+346_-4+347insGCAGTGGTG
XR_001745619.2:n.447+346_447+347insGCAGTGGTG
XR_428387.2:n.447+346_447+347insGCAGTGGTG
XR_928360.3:n.447+346_447+347insGCAGTGGTG
XR_928362.3:n.447+346_447+347insGCAGTGGTG
NM_153704.6:c.406+346_406+347insGCAGTGGTG MANE Select	NP_714915.3:n.406+346_406+347insGCAGTGGTG
NR_024522.2:n.427+346_427+347insGCAGTGGTG