Canonical Allele Identifier: CA1803212134

Gene: TMEM67

Linked Data

• dbSNP Id: rs1812696589
• gnomAD v4: 8-93758887-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758891_93758892del , CM000670.2:g.93758891_93758892del	GRCh38
NC_000008.10:g.94771119_94771120del , CM000670.1:g.94771119_94771120del	GRCh37
NC_000008.9:g.94840295_94840296del	NCBI36
NG_009190.1:g.9048_9049del , LRG_688:g.9048_9049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+315_406+316del	ENSP00000314488.4:n.406+315_406+316del
ENST00000409623.8:c.406+315_406+316del	ENSP00000386966.4:n.406+315_406+316del
ENST00000452276.6:c.406+315_406+316del	ENSP00000388671.2:n.406+315_406+316del
ENST00000453906.6:c.406+315_406+316del	ENSP00000403035.2:n.406+315_406+316del
ENST00000520680.2:c.406+315_406+316del	ENSP00000428785.2:n.406+315_406+316del
ENST00000521065.2:c.406+315_406+316del	ENSP00000427947.2:n.406+315_406+316del
ENST00000521517.6:c.406+315_406+316del	ENSP00000430740.2:n.406+315_406+316del
ENST00000681998.1:c.406+315_406+316del	ENSP00000506773.1:n.406+315_406+316del
ENST00000682036.1:c.406+315_406+316del	ENSP00000508390.1:n.406+315_406+316del
ENST00000682577.1:c.406+315_406+316del	ENSP00000506963.1:n.406+315_406+316del
ENST00000682624.1:c.*50+315_*50+316del	ENSP00000508343.1:n.*50+315_*50+316del
ENST00000682700.1:c.406+315_406+316del	ENSP00000507627.1:n.406+315_406+316del
ENST00000682804.1:n.299+315_299+316del
ENST00000682837.1:c.406+315_406+316del	ENSP00000507920.1:n.406+315_406+316del
ENST00000682935.1:n.406+315_406+316del
ENST00000682984.1:c.312+3025_312+3026del	ENSP00000507209.1:n.312+3025_312+3026del
ENST00000683078.1:c.406+315_406+316del	ENSP00000506796.1:n.406+315_406+316del
ENST00000683223.1:c.317+315_317+316del	ENSP00000507685.1:n.317+315_317+316del
ENST00000683238.1:n.227+315_227+316del
ENST00000683249.1:n.427+315_427+316del
ENST00000683336.1:c.406+315_406+316del	ENSP00000507695.1:n.406+315_406+316del
ENST00000683362.1:c.312+3025_312+3026del	ENSP00000506985.1:n.312+3025_312+3026del
ENST00000683850.1:n.329+315_329+316del
ENST00000683919.1:c.406+315_406+316del	ENSP00000507617.1:n.406+315_406+316del
ENST00000683953.1:c.317+315_317+316del	ENSP00000508375.1:n.317+315_317+316del
ENST00000684023.1:c.406+315_406+316del	ENSP00000507461.1:n.406+315_406+316del
ENST00000684064.1:c.97+315_97+316del	ENSP00000508192.1:n.97+315_97+316del
ENST00000684089.1:n.396+315_396+316del
ENST00000684149.1:c.406+315_406+316del	ENSP00000507943.1:n.406+315_406+316del
ENST00000684416.1:n.231+315_231+316del
ENST00000684540.1:c.406+315_406+316del	ENSP00000507987.1:n.406+315_406+316del
ENST00000684733.1:n.656_657del
ENST00000453321.8:c.406+315_406+316del MANE Select	ENSP00000389998.3:n.406+315_406+316del
ENST00000323130.7:c.376+315_376+316del	ENSP00000314488.3:n.376+315_376+316del
ENST00000409623.7:c.29+315_29+316del	ENSP00000386966.3:n.29+315_29+316del
ENST00000452276.5:c.97+315_97+316del	ENSP00000388671.1:n.97+315_97+316del
ENST00000453321.7:c.406+315_406+316del	ENSP00000389998.3:n.406+315_406+316del
ENST00000453906.5:c.406+315_406+316del	ENSP00000403035.1:n.406+315_406+316del
ENST00000455946.5:c.406+315_406+316del	ENSP00000416339.1:n.406+315_406+316del
ENST00000474944.5:n.426+315_426+316del
ENST00000475305.1:n.730_731del
ENST00000498673.5:c.-75+315_-75+316del	ENSP00000430232.1:n.-75+315_-75+316del
ENST00000518319.5:c.-114+315_-114+316del	ENSP00000430289.1:n.-114+315_-114+316del
ENST00000521065.1:c.312+315_312+316del
ENST00000521222.5:c.*42+315_*42+316del	ENSP00000429925.1:n.*42+315_*42+316del
ENST00000521517.5:c.398+315_398+316del
NM_001142301.1:c.29+315_29+316del , LRG_688t2:c.29+315_29+316del	NP_001135773.1:n.29+315_29+316del
NM_153704.5:c.406+315_406+316del , LRG_688t1:c.406+315_406+316del	NP_714915.3:n.406+315_406+316del
NR_024522.1:n.477+315_477+316del
XM_006716686.2:c.103+315_103+316del	XP_006716749.1:n.103+315_103+316del
XM_011517363.1:c.406+315_406+316del	XP_011515665.1:n.406+315_406+316del
XR_428387.1:n.464+315_464+316del
XR_928360.1:n.464+315_464+316del
XR_928361.1:n.464+315_464+316del
XR_928362.1:n.464+315_464+316del
XM_006716686.4:c.103+315_103+316del	XP_006716749.1:n.103+315_103+316del
XM_011517363.3:c.406+315_406+316del	XP_011515665.1:n.406+315_406+316del
XM_024447326.1:c.-4+315_-4+316del	XP_024303094.1:n.-4+315_-4+316del
XR_001745619.2:n.447+315_447+316del
XR_428387.2:n.447+315_447+316del
XR_928360.3:n.447+315_447+316del
XR_928362.3:n.447+315_447+316del
NM_153704.6:c.406+315_406+316del MANE Select	NP_714915.3:n.406+315_406+316del
NR_024522.2:n.427+315_427+316del