Canonical Allele Identifier: CA2781324455

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786077_93786166del , CM000670.2:g.93786077_93786166del	GRCh38
NC_000008.10:g.94798305_94798394del , CM000670.1:g.94798305_94798394del	GRCh37
NC_000008.9:g.94867481_94867570del	NCBI36
NG_009190.1:g.36234_36323del , LRG_688:g.36234_36323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1289-146_1289-57del	ENSP00000314488.4:n.1289-146_1289-57del
ENST00000409623.8:c.1289-191_1289-102del	ENSP00000386966.4:n.1289-191_1289-102del
ENST00000452276.6:c.1289-146_1289-57del	ENSP00000388671.2:n.1289-146_1289-57del
ENST00000453906.6:c.407-146_407-57del	ENSP00000403035.2:n.407-146_407-57del
ENST00000520680.2:c.1289-146_1289-57del	ENSP00000428785.2:n.1289-146_1289-57del
ENST00000521517.6:c.1289-146_1289-57del	ENSP00000430740.2:n.1289-146_1289-57del
ENST00000681998.1:c.1110-146_1110-57del	ENSP00000506773.1:n.1110-146_1110-57del
ENST00000682036.1:c.407-146_407-57del	ENSP00000508390.1:n.407-146_407-57del
ENST00000682577.1:c.1062-146_1062-57del	ENSP00000506963.1:n.1062-146_1062-57del
ENST00000682624.1:c.*863-146_*863-57del	ENSP00000508343.1:n.*863-146_*863-57del
ENST00000682700.1:c.1289-146_1289-57del	ENSP00000507627.1:n.1289-146_1289-57del
ENST00000682744.1:n.827-146_827-57del
ENST00000682804.1:n.1112-146_1112-57del
ENST00000682837.1:c.778-146_778-57del	ENSP00000507920.1:n.778-146_778-57del
ENST00000682935.1:n.3193_3282del
ENST00000682984.1:c.950-146_950-57del	ENSP00000507209.1:n.950-146_950-57del
ENST00000683078.1:c.1044-146_1044-57del	ENSP00000506796.1:n.1044-146_1044-57del
ENST00000683223.1:c.1021-146_1021-57del	ENSP00000507685.1:n.1021-146_1021-57del
ENST00000683238.1:n.2513-146_2513-57del
ENST00000683249.1:n.2886-146_2886-57del
ENST00000683336.1:c.1110-146_1110-57del	ENSP00000507695.1:n.1110-146_1110-57del
ENST00000683362.1:c.950-146_950-57del	ENSP00000506985.1:n.950-146_950-57del
ENST00000683850.1:n.1212-146_1212-57del
ENST00000683919.1:c.1219-146_1219-57del	ENSP00000507617.1:n.1219-146_1219-57del
ENST00000683953.1:c.1200-146_1200-57del	ENSP00000508375.1:n.1200-146_1200-57del
ENST00000684023.1:c.1266-146_1266-57del	ENSP00000507461.1:n.1266-146_1266-57del
ENST00000684064.1:c.980-146_980-57del	ENSP00000508192.1:n.980-146_980-57del
ENST00000684089.1:n.2839-146_2839-57del
ENST00000684149.1:c.*468-146_*468-57del	ENSP00000507943.1:n.*468-146_*468-57del
ENST00000684416.1:n.1248-146_1248-57del
ENST00000684540.1:c.1219-146_1219-57del	ENSP00000507987.1:n.1219-146_1219-57del
ENST00000453321.8:c.1289-146_1289-57del MANE Select	ENSP00000389998.3:n.1289-146_1289-57del
ENST00000323130.7:c.1259-146_1259-57del	ENSP00000314488.3:n.1259-146_1259-57del
ENST00000409623.7:c.1046-146_1046-57del	ENSP00000386966.3:n.1046-146_1046-57del
ENST00000452276.5:c.980-146_980-57del	ENSP00000388671.1:n.980-146_980-57del
ENST00000453321.7:c.1289-146_1289-57del	ENSP00000389998.3:n.1289-146_1289-57del
ENST00000453906.5:c.407-146_407-57del	ENSP00000403035.1:n.407-146_407-57del
ENST00000474944.5:n.427-146_427-57del
ENST00000520680.1:c.111-146_111-57del
NM_001142301.1:c.1046-146_1046-57del , LRG_688t2:c.1046-146_1046-57del	NP_001135773.1:n.1046-146_1046-57del
NM_153704.5:c.1289-146_1289-57del , LRG_688t1:c.1289-146_1289-57del	NP_714915.3:n.1289-146_1289-57del
NR_024522.1:n.1360-146_1360-57del
XM_006716686.2:c.986-146_986-57del	XP_006716749.1:n.986-146_986-57del
XM_006716687.2:c.689-146_689-57del	XP_006716750.1:n.689-146_689-57del
XM_011517363.1:c.407-146_407-57del	XP_011515665.1:n.407-146_407-57del
XR_428387.1:n.1347-146_1347-57del
XR_928360.1:n.1347-146_1347-57del
XR_928361.1:n.1347-146_1347-57del
XR_928362.1:n.1347-146_1347-57del
XM_006716686.4:c.986-146_986-57del	XP_006716749.1:n.986-146_986-57del
XM_011517363.3:c.407-146_407-57del	XP_011515665.1:n.407-146_407-57del
XM_024447326.1:c.635-146_635-57del	XP_024303094.1:n.635-146_635-57del
XR_001745619.2:n.1330-146_1330-57del
XR_428387.2:n.1330-146_1330-57del
XR_928360.3:n.1330-146_1330-57del
XR_928362.3:n.1330-146_1330-57del
NM_153704.6:c.1289-146_1289-57del MANE Select	NP_714915.3:n.1289-146_1289-57del
NR_024522.2:n.1310-146_1310-57del