Canonical Allele Identifier: CA2687919743

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780823-TAATAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780826_93780831del , CM000670.2:g.93780826_93780831del	GRCh38
NC_000008.10:g.94793054_94793059del , CM000670.1:g.94793054_94793059del	GRCh37
NC_000008.9:g.94862230_94862235del	NCBI36
NG_009190.1:g.30983_30988del , LRG_688:g.30983_30988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.870-48_870-43del	ENSP00000314488.4:n.870-48_870-43del
ENST00000409623.8:c.870-48_870-43del	ENSP00000386966.4:n.870-48_870-43del
ENST00000452276.6:c.870-48_870-43del	ENSP00000388671.2:n.870-48_870-43del
ENST00000453906.6:c.407-5397_407-5392del	ENSP00000403035.2:n.407-5397_407-5392del
ENST00000520680.2:c.870-48_870-43del	ENSP00000428785.2:n.870-48_870-43del
ENST00000521065.2:c.*587-48_*587-43del	ENSP00000427947.2:n.*587-48_*587-43del
ENST00000521517.6:c.870-48_870-43del	ENSP00000430740.2:n.870-48_870-43del
ENST00000681998.1:c.799+79_799+84del	ENSP00000506773.1:n.799+79_799+84del
ENST00000682036.1:c.407-5397_407-5392del	ENSP00000508390.1:n.407-5397_407-5392del
ENST00000682577.1:c.800-48_800-43del	ENSP00000506963.1:n.800-48_800-43del
ENST00000682624.1:c.*444-48_*444-43del	ENSP00000508343.1:n.*444-48_*444-43del
ENST00000682700.1:c.870-48_870-43del	ENSP00000507627.1:n.870-48_870-43del
ENST00000682744.1:n.408-48_408-43del
ENST00000682804.1:n.693-48_693-43del
ENST00000682837.1:c.624+79_624+84del	ENSP00000507920.1:n.624+79_624+84del
ENST00000682935.1:n.2430-48_2430-43del
ENST00000682984.1:c.531-48_531-43del	ENSP00000507209.1:n.531-48_531-43del
ENST00000683078.1:c.625-48_625-43del	ENSP00000506796.1:n.625-48_625-43del
ENST00000683223.1:c.710+79_710+84del	ENSP00000507685.1:n.710+79_710+84del
ENST00000683238.1:n.2251-48_2251-43del
ENST00000683249.1:n.2451-32_2451-27del
ENST00000683336.1:c.799+79_799+84del	ENSP00000507695.1:n.799+79_799+84del
ENST00000683362.1:c.531-48_531-43del	ENSP00000506985.1:n.531-48_531-43del
ENST00000683850.1:n.793-48_793-43del
ENST00000683919.1:c.800-48_800-43del	ENSP00000507617.1:n.800-48_800-43del
ENST00000683953.1:c.781-48_781-43del	ENSP00000508375.1:n.781-48_781-43del
ENST00000684023.1:c.1004-48_1004-43del	ENSP00000507461.1:n.1004-48_1004-43del
ENST00000684064.1:c.561-48_561-43del	ENSP00000508192.1:n.561-48_561-43del
ENST00000684089.1:n.2420-48_2420-43del
ENST00000684149.1:c.*206-48_*206-43del	ENSP00000507943.1:n.*206-48_*206-43del
ENST00000684416.1:n.829-48_829-43del
ENST00000684540.1:c.800-48_800-43del	ENSP00000507987.1:n.800-48_800-43del
ENST00000453321.8:c.870-48_870-43del MANE Select	ENSP00000389998.3:n.870-48_870-43del
ENST00000323130.7:c.840-48_840-43del	ENSP00000314488.3:n.840-48_840-43del
ENST00000409623.7:c.627-48_627-43del	ENSP00000386966.3:n.627-48_627-43del
ENST00000425545.2:n.317-48_317-43del
ENST00000452276.5:c.561-48_561-43del	ENSP00000388671.1:n.561-48_561-43del
ENST00000453321.7:c.870-48_870-43del	ENSP00000389998.3:n.870-48_870-43del
ENST00000453906.5:c.407-5397_407-5392del	ENSP00000403035.1:n.407-5397_407-5392del
ENST00000474944.5:n.427-5397_427-5392del
ENST00000496213.5:n.335-48_335-43del
NM_001142301.1:c.627-48_627-43del , LRG_688t2:c.627-48_627-43del	NP_001135773.1:n.627-48_627-43del
NM_153704.5:c.870-48_870-43del , LRG_688t1:c.870-48_870-43del	NP_714915.3:n.870-48_870-43del
NR_024522.1:n.941-48_941-43del
XM_006716686.2:c.567-48_567-43del	XP_006716749.1:n.567-48_567-43del
XM_006716687.2:c.270-48_270-43del	XP_006716750.1:n.270-48_270-43del
XM_011517363.1:c.407-5397_407-5392del	XP_011515665.1:n.407-5397_407-5392del
XR_428387.1:n.928-48_928-43del
XR_928360.1:n.928-48_928-43del
XR_928361.1:n.928-48_928-43del
XR_928362.1:n.928-48_928-43del
XM_006716686.4:c.567-48_567-43del	XP_006716749.1:n.567-48_567-43del
XM_011517363.3:c.407-5397_407-5392del	XP_011515665.1:n.407-5397_407-5392del
XM_024447326.1:c.216-48_216-43del	XP_024303094.1:n.216-48_216-43del
XR_001745619.2:n.911-48_911-43del
XR_428387.2:n.911-48_911-43del
XR_928360.3:n.911-48_911-43del
XR_928362.3:n.911-48_911-43del
NM_153704.6:c.870-48_870-43del MANE Select	NP_714915.3:n.870-48_870-43del
NR_024522.2:n.891-48_891-43del