Canonical Allele Identifier: CA2781323306

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758725_93758726insAC , CM000670.2:g.93758725_93758726insAC	GRCh38
NC_000008.10:g.94770953_94770954insAC , CM000670.1:g.94770953_94770954insAC	GRCh37
NC_000008.9:g.94840129_94840130insAC	NCBI36
NG_009190.1:g.8882_8883insAC , LRG_688:g.8882_8883insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+149_406+150insAC	ENSP00000314488.4:n.406+149_406+150insAC
ENST00000409623.8:c.406+149_406+150insAC	ENSP00000386966.4:n.406+149_406+150insAC
ENST00000452276.6:c.406+149_406+150insAC	ENSP00000388671.2:n.406+149_406+150insAC
ENST00000453906.6:c.406+149_406+150insAC	ENSP00000403035.2:n.406+149_406+150insAC
ENST00000520680.2:c.406+149_406+150insAC	ENSP00000428785.2:n.406+149_406+150insAC
ENST00000521065.2:c.406+149_406+150insAC	ENSP00000427947.2:n.406+149_406+150insAC
ENST00000521517.6:c.406+149_406+150insAC	ENSP00000430740.2:n.406+149_406+150insAC
ENST00000681998.1:c.406+149_406+150insAC	ENSP00000506773.1:n.406+149_406+150insAC
ENST00000682036.1:c.406+149_406+150insAC	ENSP00000508390.1:n.406+149_406+150insAC
ENST00000682577.1:c.406+149_406+150insAC	ENSP00000506963.1:n.406+149_406+150insAC
ENST00000682624.1:c.*50+149_*50+150insAC	ENSP00000508343.1:n.*50+149_*50+150insAC
ENST00000682700.1:c.406+149_406+150insAC	ENSP00000507627.1:n.406+149_406+150insAC
ENST00000682804.1:n.299+149_299+150insAC
ENST00000682837.1:c.406+149_406+150insAC	ENSP00000507920.1:n.406+149_406+150insAC
ENST00000682935.1:n.406+149_406+150insAC
ENST00000682984.1:c.312+2859_312+2860insAC	ENSP00000507209.1:n.312+2859_312+2860insAC
ENST00000683078.1:c.406+149_406+150insAC	ENSP00000506796.1:n.406+149_406+150insAC
ENST00000683223.1:c.317+149_317+150insAC	ENSP00000507685.1:n.317+149_317+150insAC
ENST00000683238.1:n.227+149_227+150insAC
ENST00000683249.1:n.427+149_427+150insAC
ENST00000683336.1:c.406+149_406+150insAC	ENSP00000507695.1:n.406+149_406+150insAC
ENST00000683362.1:c.312+2859_312+2860insAC	ENSP00000506985.1:n.312+2859_312+2860insAC
ENST00000683850.1:n.329+149_329+150insAC
ENST00000683919.1:c.406+149_406+150insAC	ENSP00000507617.1:n.406+149_406+150insAC
ENST00000683953.1:c.317+149_317+150insAC	ENSP00000508375.1:n.317+149_317+150insAC
ENST00000684023.1:c.406+149_406+150insAC	ENSP00000507461.1:n.406+149_406+150insAC
ENST00000684064.1:c.97+149_97+150insAC	ENSP00000508192.1:n.97+149_97+150insAC
ENST00000684089.1:n.396+149_396+150insAC
ENST00000684149.1:c.406+149_406+150insAC	ENSP00000507943.1:n.406+149_406+150insAC
ENST00000684416.1:n.231+149_231+150insAC
ENST00000684540.1:c.406+149_406+150insAC	ENSP00000507987.1:n.406+149_406+150insAC
ENST00000684733.1:n.490_491insAC
ENST00000453321.8:c.406+149_406+150insAC MANE Select	ENSP00000389998.3:n.406+149_406+150insAC
ENST00000323130.7:c.376+149_376+150insAC	ENSP00000314488.3:n.376+149_376+150insAC
ENST00000409623.7:c.29+149_29+150insAC	ENSP00000386966.3:n.29+149_29+150insAC
ENST00000452276.5:c.97+149_97+150insAC	ENSP00000388671.1:n.97+149_97+150insAC
ENST00000453321.7:c.406+149_406+150insAC	ENSP00000389998.3:n.406+149_406+150insAC
ENST00000453906.5:c.406+149_406+150insAC	ENSP00000403035.1:n.406+149_406+150insAC
ENST00000455946.5:c.406+149_406+150insAC	ENSP00000416339.1:n.406+149_406+150insAC
ENST00000474944.5:n.426+149_426+150insAC
ENST00000475305.1:n.564_565insAC
ENST00000498673.5:c.-75+149_-75+150insAC	ENSP00000430232.1:n.-75+149_-75+150insAC
ENST00000518319.5:c.-114+149_-114+150insAC	ENSP00000430289.1:n.-114+149_-114+150insAC
ENST00000521065.1:c.312+149_312+150insAC
ENST00000521222.5:c.*42+149_*42+150insAC	ENSP00000429925.1:n.*42+149_*42+150insAC
ENST00000521517.5:c.398+149_398+150insAC
NM_001142301.1:c.29+149_29+150insAC , LRG_688t2:c.29+149_29+150insAC	NP_001135773.1:n.29+149_29+150insAC
NM_153704.5:c.406+149_406+150insAC , LRG_688t1:c.406+149_406+150insAC	NP_714915.3:n.406+149_406+150insAC
NR_024522.1:n.477+149_477+150insAC
XM_006716686.2:c.103+149_103+150insAC	XP_006716749.1:n.103+149_103+150insAC
XM_011517363.1:c.406+149_406+150insAC	XP_011515665.1:n.406+149_406+150insAC
XR_428387.1:n.464+149_464+150insAC
XR_928360.1:n.464+149_464+150insAC
XR_928361.1:n.464+149_464+150insAC
XR_928362.1:n.464+149_464+150insAC
XM_006716686.4:c.103+149_103+150insAC	XP_006716749.1:n.103+149_103+150insAC
XM_011517363.3:c.406+149_406+150insAC	XP_011515665.1:n.406+149_406+150insAC
XM_024447326.1:c.-4+149_-4+150insAC	XP_024303094.1:n.-4+149_-4+150insAC
XR_001745619.2:n.447+149_447+150insAC
XR_428387.2:n.447+149_447+150insAC
XR_928360.3:n.447+149_447+150insAC
XR_928362.3:n.447+149_447+150insAC
NM_153704.6:c.406+149_406+150insAC MANE Select	NP_714915.3:n.406+149_406+150insAC
NR_024522.2:n.427+149_427+150insAC