Canonical Allele Identifier: CA2687917838

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93758622-CTTGTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758631_93758636del , CM000670.2:g.93758631_93758636del	GRCh38
NC_000008.10:g.94770859_94770864del , CM000670.1:g.94770859_94770864del	GRCh37
NC_000008.9:g.94840035_94840040del	NCBI36
NG_009190.1:g.8788_8793del , LRG_688:g.8788_8793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+55_406+60del	ENSP00000314488.4:n.406+55_406+60del
ENST00000409623.8:c.406+55_406+60del	ENSP00000386966.4:n.406+55_406+60del
ENST00000452276.6:c.406+55_406+60del	ENSP00000388671.2:n.406+55_406+60del
ENST00000453906.6:c.406+55_406+60del	ENSP00000403035.2:n.406+55_406+60del
ENST00000520680.2:c.406+55_406+60del	ENSP00000428785.2:n.406+55_406+60del
ENST00000521065.2:c.406+55_406+60del	ENSP00000427947.2:n.406+55_406+60del
ENST00000521517.6:c.406+55_406+60del	ENSP00000430740.2:n.406+55_406+60del
ENST00000681998.1:c.406+55_406+60del	ENSP00000506773.1:n.406+55_406+60del
ENST00000682036.1:c.406+55_406+60del	ENSP00000508390.1:n.406+55_406+60del
ENST00000682577.1:c.406+55_406+60del	ENSP00000506963.1:n.406+55_406+60del
ENST00000682624.1:c.*50+55_*50+60del	ENSP00000508343.1:n.*50+55_*50+60del
ENST00000682700.1:c.406+55_406+60del	ENSP00000507627.1:n.406+55_406+60del
ENST00000682804.1:n.299+55_299+60del
ENST00000682837.1:c.406+55_406+60del	ENSP00000507920.1:n.406+55_406+60del
ENST00000682935.1:n.406+55_406+60del
ENST00000682984.1:c.312+2765_312+2770del	ENSP00000507209.1:n.312+2765_312+2770del
ENST00000683078.1:c.406+55_406+60del	ENSP00000506796.1:n.406+55_406+60del
ENST00000683223.1:c.317+55_317+60del	ENSP00000507685.1:n.317+55_317+60del
ENST00000683238.1:n.227+55_227+60del
ENST00000683249.1:n.427+55_427+60del
ENST00000683336.1:c.406+55_406+60del	ENSP00000507695.1:n.406+55_406+60del
ENST00000683362.1:c.312+2765_312+2770del	ENSP00000506985.1:n.312+2765_312+2770del
ENST00000683850.1:n.329+55_329+60del
ENST00000683919.1:c.406+55_406+60del	ENSP00000507617.1:n.406+55_406+60del
ENST00000683953.1:c.317+55_317+60del	ENSP00000508375.1:n.317+55_317+60del
ENST00000684023.1:c.406+55_406+60del	ENSP00000507461.1:n.406+55_406+60del
ENST00000684064.1:c.97+55_97+60del	ENSP00000508192.1:n.97+55_97+60del
ENST00000684089.1:n.396+55_396+60del
ENST00000684149.1:c.406+55_406+60del	ENSP00000507943.1:n.406+55_406+60del
ENST00000684416.1:n.231+55_231+60del
ENST00000684540.1:c.406+55_406+60del	ENSP00000507987.1:n.406+55_406+60del
ENST00000684733.1:n.396_401del
ENST00000453321.8:c.406+55_406+60del MANE Select	ENSP00000389998.3:n.406+55_406+60del
ENST00000323130.7:c.376+55_376+60del	ENSP00000314488.3:n.376+55_376+60del
ENST00000409623.7:c.29+55_29+60del	ENSP00000386966.3:n.29+55_29+60del
ENST00000452276.5:c.97+55_97+60del	ENSP00000388671.1:n.97+55_97+60del
ENST00000453321.7:c.406+55_406+60del	ENSP00000389998.3:n.406+55_406+60del
ENST00000453906.5:c.406+55_406+60del	ENSP00000403035.1:n.406+55_406+60del
ENST00000455946.5:c.406+55_406+60del	ENSP00000416339.1:n.406+55_406+60del
ENST00000474944.5:n.426+55_426+60del
ENST00000475305.1:n.470_475del
ENST00000498673.5:c.-75+55_-75+60del	ENSP00000430232.1:n.-75+55_-75+60del
ENST00000518319.5:c.-114+55_-114+60del	ENSP00000430289.1:n.-114+55_-114+60del
ENST00000521065.1:c.312+55_312+60del
ENST00000521222.5:c.*42+55_*42+60del	ENSP00000429925.1:n.*42+55_*42+60del
ENST00000521517.5:c.398+55_398+60del
NM_001142301.1:c.29+55_29+60del , LRG_688t2:c.29+55_29+60del	NP_001135773.1:n.29+55_29+60del
NM_153704.5:c.406+55_406+60del , LRG_688t1:c.406+55_406+60del	NP_714915.3:n.406+55_406+60del
NR_024522.1:n.477+55_477+60del
XM_006716686.2:c.103+55_103+60del	XP_006716749.1:n.103+55_103+60del
XM_011517363.1:c.406+55_406+60del	XP_011515665.1:n.406+55_406+60del
XR_428387.1:n.464+55_464+60del
XR_928360.1:n.464+55_464+60del
XR_928361.1:n.464+55_464+60del
XR_928362.1:n.464+55_464+60del
XM_006716686.4:c.103+55_103+60del	XP_006716749.1:n.103+55_103+60del
XM_011517363.3:c.406+55_406+60del	XP_011515665.1:n.406+55_406+60del
XM_024447326.1:c.-4+55_-4+60del	XP_024303094.1:n.-4+55_-4+60del
XR_001745619.2:n.447+55_447+60del
XR_428387.2:n.447+55_447+60del
XR_928360.3:n.447+55_447+60del
XR_928362.3:n.447+55_447+60del
NM_153704.6:c.406+55_406+60del MANE Select	NP_714915.3:n.406+55_406+60del
NR_024522.2:n.427+55_427+60del