Canonical Allele Identifier: CA2781323235

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758634_93758635insA , CM000670.2:g.93758634_93758635insA	GRCh38
NC_000008.10:g.94770862_94770863insA , CM000670.1:g.94770862_94770863insA	GRCh37
NC_000008.9:g.94840038_94840039insA	NCBI36
NG_009190.1:g.8791_8792insA , LRG_688:g.8791_8792insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+58_406+59insA	ENSP00000314488.4:n.406+58_406+59insA
ENST00000409623.8:c.406+58_406+59insA	ENSP00000386966.4:n.406+58_406+59insA
ENST00000452276.6:c.406+58_406+59insA	ENSP00000388671.2:n.406+58_406+59insA
ENST00000453906.6:c.406+58_406+59insA	ENSP00000403035.2:n.406+58_406+59insA
ENST00000520680.2:c.406+58_406+59insA	ENSP00000428785.2:n.406+58_406+59insA
ENST00000521065.2:c.406+58_406+59insA	ENSP00000427947.2:n.406+58_406+59insA
ENST00000521517.6:c.406+58_406+59insA	ENSP00000430740.2:n.406+58_406+59insA
ENST00000681998.1:c.406+58_406+59insA	ENSP00000506773.1:n.406+58_406+59insA
ENST00000682036.1:c.406+58_406+59insA	ENSP00000508390.1:n.406+58_406+59insA
ENST00000682577.1:c.406+58_406+59insA	ENSP00000506963.1:n.406+58_406+59insA
ENST00000682624.1:c.*50+58_*50+59insA	ENSP00000508343.1:n.*50+58_*50+59insA
ENST00000682700.1:c.406+58_406+59insA	ENSP00000507627.1:n.406+58_406+59insA
ENST00000682804.1:n.299+58_299+59insA
ENST00000682837.1:c.406+58_406+59insA	ENSP00000507920.1:n.406+58_406+59insA
ENST00000682935.1:n.406+58_406+59insA
ENST00000682984.1:c.312+2768_312+2769insA	ENSP00000507209.1:n.312+2768_312+2769insA
ENST00000683078.1:c.406+58_406+59insA	ENSP00000506796.1:n.406+58_406+59insA
ENST00000683223.1:c.317+58_317+59insA	ENSP00000507685.1:n.317+58_317+59insA
ENST00000683238.1:n.227+58_227+59insA
ENST00000683249.1:n.427+58_427+59insA
ENST00000683336.1:c.406+58_406+59insA	ENSP00000507695.1:n.406+58_406+59insA
ENST00000683362.1:c.312+2768_312+2769insA	ENSP00000506985.1:n.312+2768_312+2769insA
ENST00000683850.1:n.329+58_329+59insA
ENST00000683919.1:c.406+58_406+59insA	ENSP00000507617.1:n.406+58_406+59insA
ENST00000683953.1:c.317+58_317+59insA	ENSP00000508375.1:n.317+58_317+59insA
ENST00000684023.1:c.406+58_406+59insA	ENSP00000507461.1:n.406+58_406+59insA
ENST00000684064.1:c.97+58_97+59insA	ENSP00000508192.1:n.97+58_97+59insA
ENST00000684089.1:n.396+58_396+59insA
ENST00000684149.1:c.406+58_406+59insA	ENSP00000507943.1:n.406+58_406+59insA
ENST00000684416.1:n.231+58_231+59insA
ENST00000684540.1:c.406+58_406+59insA	ENSP00000507987.1:n.406+58_406+59insA
ENST00000684733.1:n.399_400insA
ENST00000453321.8:c.406+58_406+59insA MANE Select	ENSP00000389998.3:n.406+58_406+59insA
ENST00000323130.7:c.376+58_376+59insA	ENSP00000314488.3:n.376+58_376+59insA
ENST00000409623.7:c.29+58_29+59insA	ENSP00000386966.3:n.29+58_29+59insA
ENST00000452276.5:c.97+58_97+59insA	ENSP00000388671.1:n.97+58_97+59insA
ENST00000453321.7:c.406+58_406+59insA	ENSP00000389998.3:n.406+58_406+59insA
ENST00000453906.5:c.406+58_406+59insA	ENSP00000403035.1:n.406+58_406+59insA
ENST00000455946.5:c.406+58_406+59insA	ENSP00000416339.1:n.406+58_406+59insA
ENST00000474944.5:n.426+58_426+59insA
ENST00000475305.1:n.473_474insA
ENST00000498673.5:c.-75+58_-75+59insA	ENSP00000430232.1:n.-75+58_-75+59insA
ENST00000518319.5:c.-114+58_-114+59insA	ENSP00000430289.1:n.-114+58_-114+59insA
ENST00000521065.1:c.312+58_312+59insA
ENST00000521222.5:c.*42+58_*42+59insA	ENSP00000429925.1:n.*42+58_*42+59insA
ENST00000521517.5:c.398+58_398+59insA
NM_001142301.1:c.29+58_29+59insA , LRG_688t2:c.29+58_29+59insA	NP_001135773.1:n.29+58_29+59insA
NM_153704.5:c.406+58_406+59insA , LRG_688t1:c.406+58_406+59insA	NP_714915.3:n.406+58_406+59insA
NR_024522.1:n.477+58_477+59insA
XM_006716686.2:c.103+58_103+59insA	XP_006716749.1:n.103+58_103+59insA
XM_011517363.1:c.406+58_406+59insA	XP_011515665.1:n.406+58_406+59insA
XR_428387.1:n.464+58_464+59insA
XR_928360.1:n.464+58_464+59insA
XR_928361.1:n.464+58_464+59insA
XR_928362.1:n.464+58_464+59insA
XM_006716686.4:c.103+58_103+59insA	XP_006716749.1:n.103+58_103+59insA
XM_011517363.3:c.406+58_406+59insA	XP_011515665.1:n.406+58_406+59insA
XM_024447326.1:c.-4+58_-4+59insA	XP_024303094.1:n.-4+58_-4+59insA
XR_001745619.2:n.447+58_447+59insA
XR_428387.2:n.447+58_447+59insA
XR_928360.3:n.447+58_447+59insA
XR_928362.3:n.447+58_447+59insA
NM_153704.6:c.406+58_406+59insA MANE Select	NP_714915.3:n.406+58_406+59insA
NR_024522.2:n.427+58_427+59insA