Canonical Allele Identifier: CA2579205621

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780984-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780988del , CM000670.2:g.93780988del	GRCh38
NC_000008.10:g.94793216del , CM000670.1:g.94793216del	GRCh37
NC_000008.9:g.94862392del	NCBI36
NG_009190.1:g.31145del , LRG_688:g.31145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.978+6del	ENSP00000314488.4:n.978+6del
ENST00000409623.8:c.978+6del	ENSP00000386966.4:n.978+6del
ENST00000452276.6:c.978+6del	ENSP00000388671.2:n.978+6del
ENST00000453906.6:c.407-5235del	ENSP00000403035.2:n.407-5235del
ENST00000520680.2:c.978+6del	ENSP00000428785.2:n.978+6del
ENST00000521065.2:c.*695+6del	ENSP00000427947.2:n.*695+6del
ENST00000521517.6:c.978+6del	ENSP00000430740.2:n.978+6del
ENST00000681998.1:c.799+241del	ENSP00000506773.1:n.799+241del
ENST00000682036.1:c.407-5235del	ENSP00000508390.1:n.407-5235del
ENST00000682577.1:c.908+6del	ENSP00000506963.1:n.908+6del
ENST00000682624.1:c.*552+6del	ENSP00000508343.1:n.*552+6del
ENST00000682700.1:c.978+6del	ENSP00000507627.1:n.978+6del
ENST00000682744.1:n.516+6del
ENST00000682804.1:n.801+6del
ENST00000682837.1:c.624+241del	ENSP00000507920.1:n.624+241del
ENST00000682935.1:n.2538+6del
ENST00000682984.1:c.639+6del	ENSP00000507209.1:n.639+6del
ENST00000683078.1:c.733+6del	ENSP00000506796.1:n.733+6del
ENST00000683223.1:c.710+241del	ENSP00000507685.1:n.710+241del
ENST00000683238.1:n.2359+6del
ENST00000683249.1:n.2575+6del
ENST00000683336.1:c.799+241del	ENSP00000507695.1:n.799+241del
ENST00000683362.1:c.639+6del	ENSP00000506985.1:n.639+6del
ENST00000683850.1:n.901+6del
ENST00000683919.1:c.908+6del	ENSP00000507617.1:n.908+6del
ENST00000683953.1:c.889+6del	ENSP00000508375.1:n.889+6del
ENST00000684023.1:c.1112+6del	ENSP00000507461.1:n.1112+6del
ENST00000684064.1:c.669+6del	ENSP00000508192.1:n.669+6del
ENST00000684089.1:n.2528+6del
ENST00000684149.1:c.*314+6del	ENSP00000507943.1:n.*314+6del
ENST00000684416.1:n.937+6del
ENST00000684540.1:c.908+6del	ENSP00000507987.1:n.908+6del
ENST00000453321.8:c.978+6del MANE Select	ENSP00000389998.3:n.978+6del
ENST00000323130.7:c.948+6del	ENSP00000314488.3:n.948+6del
ENST00000409623.7:c.735+6del	ENSP00000386966.3:n.735+6del
ENST00000425545.2:n.425+6del
ENST00000452276.5:c.669+6del	ENSP00000388671.1:n.669+6del
ENST00000453321.7:c.978+6del	ENSP00000389998.3:n.978+6del
ENST00000453906.5:c.407-5235del	ENSP00000403035.1:n.407-5235del
ENST00000474944.5:n.427-5235del
NM_001142301.1:c.735+6del , LRG_688t2:c.735+6del	NP_001135773.1:n.735+6del
NM_153704.5:c.978+6del , LRG_688t1:c.978+6del	NP_714915.3:n.978+6del
NR_024522.1:n.1049+6del
XM_006716686.2:c.675+6del	XP_006716749.1:n.675+6del
XM_006716687.2:c.378+6del	XP_006716750.1:n.378+6del
XM_011517363.1:c.407-5235del	XP_011515665.1:n.407-5235del
XR_428387.1:n.1036+6del
XR_928360.1:n.1036+6del
XR_928361.1:n.1036+6del
XR_928362.1:n.1036+6del
XM_006716686.4:c.675+6del	XP_006716749.1:n.675+6del
XM_011517363.3:c.407-5235del	XP_011515665.1:n.407-5235del
XM_024447326.1:c.324+6del	XP_024303094.1:n.324+6del
XR_001745619.2:n.1019+6del
XR_428387.2:n.1019+6del
XR_928360.3:n.1019+6del
XR_928362.3:n.1019+6del
NM_153704.6:c.978+6del MANE Select	NP_714915.3:n.978+6del
NR_024522.2:n.999+6del