Canonical Allele Identifier: CA2499219450

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1074275
• ClinVar RCV Id: RCV001387503 ; RCV003132492
• dbSNP Id: rs2130690833
• gnomAD v4: 8-93786265-TAGTGGATGCAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786272_93786284del , CM000670.2:g.93786272_93786284del	GRCh38
NC_000008.10:g.94798500_94798512del , CM000670.1:g.94798500_94798512del	GRCh37
NC_000008.9:g.94867676_94867688del	NCBI36
NG_009190.1:g.36429_36441del , LRG_688:g.36429_36441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1338_1350del	ENSP00000314488.4:p.Ala447GlufsTer5
ENST00000409623.8:c.1293_1305del
ENST00000452276.6:c.1338_1350del	ENSP00000388671.2:p.Ala447GlufsTer5
ENST00000453906.6:c.456_468del	ENSP00000403035.2:p.Ala153GlufsTer5
ENST00000520680.2:c.1338_1350del	ENSP00000428785.2:p.Ala447GlufsTer5
ENST00000521517.6:c.1338_1350del	ENSP00000430740.2:p.Ala447GlufsTer5
ENST00000681998.1:c.1159_1171del	ENSP00000506773.1:n.1159_1171del
ENST00000682036.1:c.456_468del	ENSP00000508390.1:p.Ala153GlufsTer5
ENST00000682577.1:c.1111_1123del	ENSP00000506963.1:n.1111_1123del
ENST00000682624.1:c.*912_*924del	ENSP00000508343.1:n.*912_*924del
ENST00000682700.1:c.1338_1350del	ENSP00000507627.1:p.Ala447GlufsTer5
ENST00000682744.1:n.876_888del
ENST00000682804.1:n.1161_1173del
ENST00000682837.1:c.827_839del	ENSP00000507920.1:n.827_839del
ENST00000682935.1:n.3388_3400del
ENST00000682984.1:c.999_1011del	ENSP00000507209.1:p.Ala334GlufsTer5
ENST00000683078.1:c.1093_1105del	ENSP00000506796.1:n.1093_1105del
ENST00000683223.1:c.1070_1082del	ENSP00000507685.1:n.1070_1082del
ENST00000683238.1:n.2562_2574del
ENST00000683249.1:n.2935_2947del
ENST00000683336.1:c.1159_1171del	ENSP00000507695.1:n.1159_1171del
ENST00000683362.1:c.999_1011del	ENSP00000506985.1:p.Ala334GlufsTer5
ENST00000683850.1:n.1261_1273del
ENST00000683919.1:c.1268_1280del	ENSP00000507617.1:n.1268_1280del
ENST00000683953.1:c.1249_1261del	ENSP00000508375.1:n.1249_1261del
ENST00000684023.1:c.1315_1327del	ENSP00000507461.1:n.1315_1327del
ENST00000684064.1:c.1029_1041del	ENSP00000508192.1:p.Ala344GlufsTer5
ENST00000684089.1:n.2888_2900del
ENST00000684149.1:c.*517_*529del	ENSP00000507943.1:n.*517_*529del
ENST00000684416.1:n.1297_1309del
ENST00000684540.1:c.1268_1280del	ENSP00000507987.1:n.1268_1280del
ENST00000453321.8:c.1338_1350del MANE Select	ENSP00000389998.3:p.Ala447GlufsTer5
ENST00000323130.7:c.1308_1320del	ENSP00000314488.3:p.Ala437GlufsTer5
ENST00000409623.7:c.1095_1107del	ENSP00000386966.3:p.Ala366GlufsTer5
ENST00000452276.5:c.1029_1041del	ENSP00000388671.1:p.Ala344GlufsTer5
ENST00000453321.7:c.1338_1350del	ENSP00000389998.3:p.Ala447GlufsTer5
ENST00000453906.5:c.456_468del	ENSP00000403035.1:p.Ala153GlufsTer5
ENST00000474944.5:n.476_488del
ENST00000520680.1:c.160_172del
NM_001142301.1:c.1095_1107del , LRG_688t2:c.1095_1107del	NP_001135773.1:p.Ala366GlufsTer5
NM_153704.5:c.1338_1350del , LRG_688t1:c.1338_1350del	NP_714915.3:p.Ala447GlufsTer5
NR_024522.1:n.1409_1421del
XM_006716686.2:c.1035_1047del	XP_006716749.1:p.Ala346GlufsTer5
XM_006716687.2:c.738_750del	XP_006716750.1:p.Ala247GlufsTer5
XM_011517363.1:c.456_468del	XP_011515665.1:p.Ala153GlufsTer5
XR_428387.1:n.1396_1408del
XR_928360.1:n.1396_1408del
XR_928361.1:n.1396_1408del
XR_928362.1:n.1396_1408del
XM_006716686.4:c.1035_1047del	XP_006716749.1:p.Ala346GlufsTer5
XM_011517363.3:c.456_468del	XP_011515665.1:p.Ala153GlufsTer5
XM_024447326.1:c.684_696del	XP_024303094.1:p.Ala229GlufsTer5
XR_001745619.2:n.1379_1391del
XR_428387.2:n.1379_1391del
XR_928360.3:n.1379_1391del
XR_928362.3:n.1379_1391del
NM_153704.6:c.1338_1350del MANE Select	NP_714915.3:p.Ala447GlufsTer5
NR_024522.2:n.1359_1371del